Richard A. Gibbs, Ph.D - Publications

Affiliations: 
1991-2001 Pharmacy Wayne State University, Detroit, MI, United States 
 2001-2014 Pharmacy Purdue University, West Lafayette, IN, United States 
Website:
http://www.legacy.com/obituaries/jconline/obituary.aspx?n=richard-a-gibbs&pid=169689198&fhid=17363

500 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, et al. Response to Biesecker et al. American Journal of Human Genetics. 108: 1807-1808. PMID 34478655 DOI: 10.1016/j.ajhg.2021.07.004  1
2021 Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, ... Gibbs RA, et al. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. American Journal of Human Genetics. PMID 34450031 DOI: 10.1016/j.ajhg.2021.08.002  1
2021 Doddapaneni H, Cregeen SJ, Sucgang R, Meng Q, Qin X, Avadhanula V, Chao H, Menon V, Nicholson E, Henke D, Piedra FA, Rajan A, Momin Z, Kottapalli K, Hoffman KL, ... Gibbs RA, et al. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. Plos One. 16: e0244468. PMID 34432798 DOI: 10.1371/journal.pone.0244468  1
2021 Tosur M, Soler-Alfonso C, Chan KM, Khayat MM, Jhangiani SN, Meng Q, Refaey A, Muzny D, Gibbs RA, Murdock DR, Posey JE, Balasubramanyam A, Redondo MJ, Sabo A. Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY). Pediatric Diabetes. PMID 34387403 DOI: 10.1111/pedi.13257  1
2021 Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, ... ... Gibbs RA, et al. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34385670 DOI: 10.1038/s41436-021-01291-x  1
2021 Murdock DR, Venner E, Muzny DM, Metcalf GA, Murugan M, Hadley TD, Chander V, de Vries PS, Jia X, Hussain A, Agha AM, Sabo A, Li S, Meng Q, Hu J, ... ... Gibbs RA, et al. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34363016 DOI: 10.1038/s41436-021-01294-8  1
2021 Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa J, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, ... Gibbs RA, et al. Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders. The Journal of Allergy and Clinical Immunology. PMID 34329649 DOI: 10.1016/j.jaci.2021.07.015  1
2021 Farinholt T, Doddapaneni H, Qin X, Menon V, Meng Q, Metcalf G, Chao H, Gingras MC, Farinholt P, Agrawal C, Muzny DM, Piedra PA, Gibbs RA, Petrosino J. Transmission event of SARS-CoV-2 Delta variant reveals multiple vaccine breakthrough infections. Medrxiv : the Preprint Server For Health Sciences. PMID 34268529 DOI: 10.1101/2021.06.28.21258780  1
2021 Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, ... ... Gibbs RA, et al. Neptune: an environment for the delivery of genomic medicine. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34257418 DOI: 10.1038/s41436-021-01230-w  1
2021 Li H, Dawood M, Khayat MM, Farek JR, Jhangiani SN, Khan ZM, Mitani T, Coban-Akdemir Z, Lupski JR, Venner E, Posey JE, Sabo A, Gibbs RA. Exome variant discrepancies due to reference genome differences. American Journal of Human Genetics. PMID 34129815 DOI: 10.1016/j.ajhg.2021.05.011  1
2021 Contreras JL, Ladino MA, Aránguiz K, Mendez GP, Coban-Akdemir Z, Yuan B, Gibbs RA, Burrage LC, Lupski JR, Chinn IK, Vogel TP, Orange JS, Poli MC. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Frontiers in Pediatrics. 9: 673957. PMID 34095032 DOI: 10.3389/fped.2021.673957  1
2021 Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, Coban-Akdemir Z, Milewicz DM, Gibbs RA, Posey JE, Marafi D, Hunter JV, Fan Y, Lupski JR, Miyake CY. Risk of sudden cardiac death in EXOSC5-related disease. American Journal of Medical Genetics. Part A. PMID 34089229 DOI: 10.1002/ajmg.a.62352  1
2021 Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR. Biallelic Pathogenic Variants in Associated With Congenital Myopathy. Neurology. Genetics. 7: e589. PMID 33977145 DOI: 10.1212/NXG.0000000000000589  1
2021 Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, ... Gibbs RA, et al. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American Journal of Medical Genetics. Part A. PMID 33964184 DOI: 10.1002/ajmg.a.62221  1
2021 Murugan M, Babb LJ, Overby Taylor C, Rasmussen LV, Freimuth RR, Venner E, Yan F, Yi V, Granite SJ, Zouk H, Aronson SJ, Power K, Fedotov A, Crosslin DR, Fasel D, ... Gibbs RA, et al. Genomic Considerations for FHIR®; eMERGE Implementation Lessons. Journal of Biomedical Informatics. 103795. PMID 33930535 DOI: 10.1016/j.jbi.2021.103795  1
2021 Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, ... Gibbs RA, et al. Author Correction: High-depth African genomes inform human migration and health. Nature. 592: E26. PMID 33846614 DOI: 10.1038/s41586-021-03286-9  1
2021 Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, ... Gibbs RA, et al. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nature Communications. 12: 2182. PMID 33846329 DOI: 10.1038/s41467-021-22339-1  1
2021 Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American Journal of Medical Genetics. Part A. PMID 33797191 DOI: 10.1002/ajmg.a.62192  1
2021 Hansen AW, Arora P, Khayat MM, Smith LJ, Lewis AM, Rossetti LZ, Jayaseelan J, Cristian I, Haynes D, DiTroia S, Meeks N, Delgado MR, Rosenfeld JA, Pais L, White SM, ... Gibbs RA, et al. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. Hgg Advances. 2. PMID 33665635 DOI: 10.1016/j.xhgg.2020.100014  1
2021 Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, ... Gibbs RA, et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs Syndrome. Human Mutation. PMID 33644933 DOI: 10.1002/humu.24190  1
2021 Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, ... ... Gibbs RA, et al. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Molecular Psychiatry. PMID 33597717 DOI: 10.1038/s41380-021-01035-y  1
2021 Saad AK, Marafi D, Mitani T, Du H, Rafat K, Fatih JM, Jhangiani SN, Coban-Akdemir Z, Gibbs RA, Pehlivan D, Hunter JV, Posey JE, Zaki MS, Lupski JR. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. American Journal of Medical Genetics. Part A. PMID 33544954 DOI: 10.1002/ajmg.a.62100  1
2021 Lakis V, Lawlor RT, Newell F, Patch AM, Mafficini A, Sadanandam A, Koufariotis LT, Johnston RL, Leonard C, Wood S, Rusev B, Corbo V, Luchini C, Cingarlini S, Landoni L, ... Gibbs RA, et al. DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association. Communications Biology. 4: 155. PMID 33536587 DOI: 10.1038/s42003-020-01469-0  1
2021 Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Gibbs RA, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014  1
2020 Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, et al. Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group. Journal of the National Cancer Institute. PMID 33372952 DOI: 10.1093/jnci/djaa204  1
2020 Zarate S, Carroll A, Mahmoud M, Krasheninina O, Jun G, Salerno WJ, Schatz MC, Boerwinkle E, Gibbs RA, Sedlazeck FJ. Parliament2: Accurate structural variant calling at scale. Gigascience. 9. PMID 33347570 DOI: 10.1093/gigascience/giaa145  1
2020 Doddapaneni H, Cregeen SJ, Sucgang R, Meng Q, Qin X, Avadhanula V, Chao H, Menon V, Nicholson E, Henke D, Piedra FA, Rajan A, Momin Z, Kottapalli K, Hoffman KL, ... ... Gibbs RA, et al. Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals. Biorxiv : the Preprint Server For Biology. PMID 33330863 DOI: 10.1101/2020.12.11.421057  1
2020 Vanderpool D, Minh BQ, Lanfear R, Hughes D, Murali S, Harris RA, Raveendran M, Muzny DM, Hibbins MS, Williamson RJ, Gibbs RA, Worley KC, Rogers J, Hahn MW. Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression. Plos Biology. 18: e3000954. PMID 33270638 DOI: 10.1371/journal.pbio.3000954  1
2020 Monroe TO, Garrett ME, Kousi M, Rodriguiz RM, Moon S, Bai Y, Brodar SC, Soldano KL, Savage J, Hansen TF, Muzny DM, Gibbs RA, Barak L, Sullivan PF, Ashley-Koch AE, et al. PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nature Communications. 11: 5903. PMID 33214552 DOI: 10.1038/s41467-020-19637-5  1
2020 Hughes JF, Skaletsky H, Pyntikova T, Koutseva N, Raudsepp T, Brown LG, Bellott DW, Cho TJ, Dugan-Rocha S, Khan Z, Kremitzki C, Fronick C, Graves-Lindsay TA, Fulton L, Warren WC, ... Gibbs RA, et al. Sequence analysis in reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Research. PMID 33208454 DOI: 10.1101/gr.269902.120  1
2020 Rotenberg D, Baumann AA, Ben-Mahmoud S, Christiaens O, Dermauw W, Ioannidis P, Jacobs CGC, Vargas Jentzsch IM, Oliver JE, Poelchau MF, Rajarapu SP, Schneweis DJ, Snoeck S, Taning CNT, Wei D, ... Gibbs RA, et al. Correction to: Genome-enabled insights into the biology of thrips as crop pests. Bmc Biology. 18: 169. PMID 33198778 DOI: 10.1186/s12915-020-00915-z  1
2020 Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, ... ... Gibbs RA, et al. High-depth African genomes inform human migration and health. Nature. 586: 741-748. PMID 33116287 DOI: 10.1038/s41586-020-2859-7  1
2020 Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, ... ... Gibbs RA, et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Human Molecular Genetics. PMID 33105479 DOI: 10.1093/hmg/ddaa237  1
2020 Rotenberg D, Baumann AA, Ben-Mahmoud S, Christiaens O, Dermauw W, Ioannidis P, Jacobs CGC, Vargas Jentzsch IM, Oliver JE, Poelchau MF, Rajarapu SP, Schneweis DJ, Snoeck S, Taning CNT, Wei D, ... ... Gibbs RA, et al. Genome-enabled insights into the biology of thrips as crop pests. Bmc Biology. 18: 142. PMID 33070780 DOI: 10.1186/s12915-020-00862-9  1
2020 Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American Journal of Medical Genetics. Part A. PMID 33048444 DOI: 10.1002/ajmg.a.61908  1
2020 Saengboonmee C, Phoomak C, Supabphol S, Covington KR, Hampton O, Wongkham C, Gibbs RA, Umezawa K, Seubwai W, Gingras MC, Wongkham S. NF-κB and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells. Life Sciences. 262: 118548. PMID 33038372 DOI: 10.1016/j.lfs.2020.118548  1
2020 Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain : a Journal of Neurology. PMID 33011761 DOI: 10.1093/brain/awaa256  1
2020 Montenegro-Garreaud X, Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, ... Gibbs R, et al. Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases. Human Mutation. PMID 32935419 DOI: 10.1002/Humu.24118  1
2020 Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, ... Gibbs RA, et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. The Journal of Clinical Investigation. PMID 32865517 DOI: 10.1172/Jci134966  1
2020 Gibbs RA. The Human Genome Project changed everything. Nature Reviews. Genetics. PMID 32770171 DOI: 10.1038/S41576-020-0275-3  0.01
2020 Sabo A, Murdock D, Dugan S, Meng Q, Gingras MC, Hu J, Muzny D, Gibbs R. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Molecular Genetics & Genomic Medicine. e1439. PMID 32767738 DOI: 10.1002/Mgg3.1439  1
2020 Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, ... Gibbs RA, et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science (New York, N.Y.). 369: 202-207. PMID 32647003 DOI: 10.1126/Science.Aay5663  1
2020 Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, ... Gibbs RA, et al. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32576985 DOI: 10.1038/S41436-020-0864-8  1
2020 Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban Akdemir ZH, Jhangiani SN, Muzny DM, ... Gibbs RA, et al. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. The Journal of Clinical Investigation. PMID 32484799 DOI: 10.1172/Jci131297  1
2020 Oeyen JP, Baa-Puyoulet P, Benoit JB, Beukeboom LW, Bornberg-Bauer E, Buttstedt A, Calevro F, Cash EI, Chao H, Charles H, Chen MM, Childers C, Cridge AG, Dearden P, Dinh H, ... Gibbs RA, et al. Sawfly genomes reveal evolutionary acquisitions that fostered the mega-radiation of parasitoid and eusocial Hymenoptera. Genome Biology and Evolution. PMID 32442304 DOI: 10.1093/Gbe/Evaa106  1
2020 Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, ... Gibbs RA, et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32424177 DOI: 10.1038/S41436-020-0811-8  1
2020 Narita TB, Kawabe Y, Kin K, Gibbs RA, Kuspa A, Muzny DM, Richards S, Strassmann JE, Sucgang R, Worley KC, Schaap P. Loss of the polyketide synthase StlB results in stalk cell overproduction in Polysphondylium violaceum. Genome Biology and Evolution. PMID 32386295 DOI: 10.1093/Gbe/Evaa079  1
2020 Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, ... ... Gibbs RA, et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. European Journal of Human Genetics : Ejhg. PMID 32376988 DOI: 10.1038/S41431-020-0632-X  1
2020 Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, ... Gibbs RA, et al. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Annals of Clinical and Translational Neurology. PMID 32286009 DOI: 10.1002/Acn3.51003  1
2020 Schloss JA, Gibbs RA, Makhijani VB, Marziali A. Cultivating DNA Sequencing Technology After the Human Genome Project. Annual Review of Genomics and Human Genetics. PMID 32283947 DOI: 10.1146/Annurev-Genom-111919-082433  0.01
2020 Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, Gambin T, Valdes SO, Cannon B, Zapata G, Hernandez PP, Jhangiani S, Doddapaneni H, Hu J, Boricha F, ... Gibbs RA, et al. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. American Journal of Medical Genetics. Part A. PMID 32233023 DOI: 10.1002/Ajmg.A.61571  1
2020 Sparks ME, Bansal R, Benoit JB, Blackburn MB, Chao H, Chen M, Cheng S, Childers C, Dinh H, Doddapaneni HV, Dugan S, Elpidina EN, Farrow DW, Friedrich M, Gibbs RA, et al. Brown marmorated stink bug, Halyomorpha halys (Stål), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pest. Bmc Genomics. 21: 227. PMID 32171258 DOI: 10.1186/S12864-020-6510-7  1
2020 Chen S, Jain M, Jhangiani S, Akdemir ZC, Campeau PM, Klein RF, Nielson C, Dai H, Muzny DM, Boerwinkle E, Gibbs RA, Orwoll ES, Lupski JR, Posey JE, Lee B. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). Jbmr Plus. 4: e10335. PMID 32161841 DOI: 10.1002/jbm4.10335  1
2020 Thomas GWC, Dohmen E, Hughes DST, Murali SC, Poelchau M, Glastad K, Anstead CA, Ayoub NA, Batterham P, Bellair M, Binford GJ, Chao H, Chen YH, Childers C, Dinh H, ... Gibbs RA, et al. Gene content evolution in the arthropods. Genome Biology. 21: 15. PMID 31969194 DOI: 10.1186/S13059-019-1925-7  1
2020 Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Human Molecular Genetics. PMID 31943016 DOI: 10.1093/Hmg/Ddz305  1
2020 Tosur M, Sabo A, Khayat MM, Jhangiani SN, Refaey AK, Muzny D, Gibbs RA, Balasubramanyam A, Redondo MJ. 1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY) Diabetes. 69. DOI: 10.2337/Db20-1550-P  1
2019 Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, ... Gibbs RA, et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain : a Journal of Neurology. PMID 31794024 DOI: 10.1093/Brain/Awz374  1
2019 Vehik K, Lynch KF, Wong MC, Tian X, Ross MC, Gibbs RA, Ajami NJ, Petrosino JF, Rewers M, Toppari J, Ziegler AG, She JX, Lernmark A, Akolkar B, Hagopian WA, et al. Prospective virome analyses in young children at increased genetic risk for type 1 diabetes. Nature Medicine. PMID 31792456 DOI: 10.1038/S41591-019-0667-0  1
2019 Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, ... Gibbs R, et al. A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders. Human Mutation. PMID 31692161 DOI: 10.1002/Humu.23946  1
2019 Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM, Davis EE, ... ... Gibbs RA, et al. A Genocentric Approach to Discovery of Mendelian Disorders. American Journal of Human Genetics. PMID 31668702 DOI: 10.1016/J.Ajhg.2019.09.027  1
2019 Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, ... Gibbs RA, et al. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. PMID 31636380 DOI: 10.1038/s41380-019-0529-7  1
2019 Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, ... Gibbs RA, et al. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. American Journal of Human Genetics. PMID 31630790 DOI: 10.1016/J.Ajhg.2019.09.017  1
2019 Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, ... ... Gibbs RA, et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. The Journal of Experimental Medicine. PMID 31601675 DOI: 10.1084/Jem.20190147  1
2019 Robyns T, Willems R, Van Cleemput J, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Breckpot J, Devriendt K, Corveleyn A. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in . Acta Cardiologica. 1-6. PMID 31583969 DOI: 10.1080/00015385.2019.1674490  1
2019 Chander V, Gibbs RA, Sedlazeck FJ. Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 8. PMID 31494671 DOI: 10.1093/Gigascience/Giz110  1
2019 Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. Npj Genomic Medicine. 4: 19. PMID 31452935 DOI: 10.1038/S41525-019-0093-8  1
2019 Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Annals of Clinical and Translational Neurology. 6: 1395-1406. PMID 31402629 DOI: 10.1002/Acn3.50824  1
2019 Bielinski SJ, St Sauver JL, Olson JE, Larson NB, Black JL, Scherer SE, Bernard ME, Boerwinkle E, Borah BJ, Caraballo PJ, Curry TB, Doddapaneni H, Formea CM, Freimuth RR, Gibbs RA, et al. Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). International Journal of Epidemiology. PMID 31378813 DOI: 10.1093/Ije/Dyz123  1
2019 Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, ... ... Gibbs RA, et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. American Journal of Human Genetics. PMID 31256877 DOI: 10.1016/J.Ajhg.2019.06.001  1
2019 Floyd JS, Bloch KM, Brody JA, Maroteau C, Siddiqui MK, Gregory R, Carr DF, Molokhia M, Liu X, Bis JC, Ahmed A, Liu X, Hallberg P, Yue QY, Magnusson PKE, ... Gibbs RA, et al. Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. Plos One. 14: e0218115. PMID 31242253 DOI: 10.1371/Journal.Pone.0218115  1
2019 Venner E, Murugan M, Hale W, Jones JM, Lu S, Yi V, Gibbs RA. ARBoR: an identity and security solution for clinical reporting. Journal of the American Medical Informatics Association : Jamia. PMID 31241152 DOI: 10.1093/Jamia/Ocz107  1
2019 Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, ... Gibbs RA, et al. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. American Journal of Human Genetics. PMID 31230720 DOI: 10.1016/J.Ajhg.2019.05.015  1
2019 Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, ... Gibbs RA, et al. Reanalysis of Clinical Exome Sequencing Data. The New England Journal of Medicine. 380: 2478-2480. PMID 31216405 DOI: 10.1056/Nejmc1812033  1
2019 Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, ... Gibbs RA, et al. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Medicine. 11: 30. PMID 31101064 DOI: 10.1186/S13073-019-0639-5  1
2019 Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, ... Gibbs RA, et al. Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease. The Journal of Clinical Endocrinology and Metabolism. PMID 31042289 DOI: 10.1210/Jc.2019-00248  1
2019 Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Stankiewicz P, et al. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Medicine. 11: 25. PMID 31014393 DOI: 10.1186/S13073-019-0633-Y  1
2019 Hollister EB, Oezguen N, Chumpitazi BP, Luna RA, Weidler EM, Rubio-Gonzales M, Dahdouli M, Cope JL, Mistretta TA, Raza S, Metcalf GA, Muzny DM, Gibbs RA, Petrosino JF, Heitkemper M, et al. Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome. The Journal of Molecular Diagnostics : Jmd. PMID 31005411 DOI: 10.1016/J.Jmoldx.2019.01.006  1
2019 Loomis SJ, Köttgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs R, Muzny D, Pankow J, Selvin E, Duggal P. Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Scientific Reports. 9: 5941. PMID 30976018 DOI: 10.1038/S41598-019-42202-0  1
2019 Panfilio KA, Vargas Jentzsch IM, Benoit JB, Erezyilmaz D, Suzuki Y, Colella S, Robertson HM, Poelchau MF, Waterhouse RM, Ioannidis P, Weirauch MT, Hughes DST, Murali SC, Werren JH, Jacobs CGC, ... Gibbs RA, et al. Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome. Genome Biology. 20: 64. PMID 30935422 DOI: 10.1186/S13059-019-1660-0  1
2019 Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, ... ... Gibbs RA, et al. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Medicine. 11: 16. PMID 30909959 DOI: 10.1186/S13073-019-0630-1  1
2019 Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 177: 32-37. PMID 30901545 DOI: 10.1016/J.Cell.2019.02.040  1
2019 Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, ... Gibbs RA, et al. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30890783 DOI: 10.1038/S41436-019-0475-4  1
2019 Rogers J, Raveendran M, Harris RA, Mailund T, Leppälä K, Athanasiadis G, Schierup MH, Cheng J, Munch K, Walker JA, Konkel MK, Jordan V, Steely CJ, Beckstrom TO, Bergey C, ... Gibbs RA, et al. The comparative genomics and complex population history of baboons. Science Advances. 5: eaau6947. PMID 30854422 DOI: 10.1126/Sciadv.Aau6947  1
2019 Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, ... ... Gibbs RA, et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. PMID 30827684 DOI: 10.1016/J.Cell.2019.01.045  1
2019 Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, ... Gibbs RA, et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Medicine. 11: 12. PMID 30819258 DOI: 10.1186/S13073-019-0623-0  1
2019 Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, ... Gibbs RA, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics. PMID 30773277 DOI: 10.1016/J.Ajhg.2019.01.007  1
2019 Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, et al. Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome. Hepatology (Baltimore, Md.). PMID 30664273 DOI: 10.1002/Hep.30515  1
2019 Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, ... ... Gibbs RA, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7  1
2019 Petersen M, Armisén D, Gibbs RA, Hering L, Khila A, Mayer G, Richards S, Niehuis O, Misof B. Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects. Bmc Evolutionary Biology. 19: 11. PMID 30626321 DOI: 10.1186/S12862-018-1324-9  1
2019 Petty LE, Highland HM, Gamazon ER, Hu H, Karhade M, Chen HH, de Vries PS, Grove ML, Aguilar D, Bell GI, Huff CD, Hanis CL, Doddapaneni H, Munzy DM, Gibbs RA, et al. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Human Molecular Genetics. PMID 30624610 DOI: 10.1093/Hmg/Ddy435  1
2019 Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, ... Gibbs RA, et al. Genetic architecture of laterality defects revealed by whole exome sequencing. European Journal of Human Genetics : Ejhg. PMID 30622330 DOI: 10.1038/S41431-018-0307-Z  1
2019 Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA. Xia-Gibbs Syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harbor Molecular Case Studies. PMID 30622101 DOI: 10.1101/mcs.a003608  1
2019 Grover G, Davies AH, Rudarakanchana N, Perera A, Hamady M, Gibbs R. Cerebral Embolic Protection to Prevent Brain Inury in Thoracic Aortic Stent-Grafting (TEVAR) European Journal of Vascular and Endovascular Surgery. 58. DOI: 10.1016/J.Ejvs.2019.06.615  0.01
2018 Chen C, Meng Q, Xia Y, Ding C, Wang L, Dai R, Cheng L, Gunaratne P, Gibbs RA, Min S, Coarfa C, Reid JG, Zhang C, Jiao C, Jiang Y, et al. The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders. Science Translational Medicine. PMID 30545964 DOI: 10.1126/Scitranslmed.Aat8178  1
2018 Armisén D, Rajakumar R, Friedrich M, Benoit JB, Robertson HM, Panfilio KA, Ahn SJ, Poelchau MF, Chao H, Dinh H, Doddapaneni HV, Dugan S, Gibbs RA, Hughes DST, Han Y, et al. The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water. Bmc Genomics. 19: 832. PMID 30463532 DOI: 10.1186/S12864-018-5163-2  1
2018 Stewart CJ, Ajami NJ, O'Brien JL, Hutchinson DS, Smith DP, Wong MC, Ross MC, Lloyd RE, Doddapaneni H, Metcalf GA, Muzny D, Gibbs RA, Vatanen T, Huttenhower C, Xavier RJ, et al. Temporal development of the gut microbiome in early childhood from the TEDDY study. Nature. 562: 583-588. PMID 30356187 DOI: 10.1038/S41586-018-0617-X  1
2018 Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, ... Gibbs RA, et al. Phenotypic expansion in - a common cause of intellectual disability in females. Annals of Clinical and Translational Neurology. 5: 1277-1285. PMID 30349862 DOI: 10.1002/Acn3.622  1
2018 Jin Z, Burrage LC, Jiang MM, Lee YC, Bertin T, Chen Y, Tran A, Gibbs RA, Jhangiani S, Sutton VR, Rauch F, Lee B, Jain M. Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI. Jbmr Plus. 2: 235-239. PMID 30283904 DOI: 10.1002/jbm4.10044  1
2018 Thomas GWC, Wang RJ, Puri A, Harris RA, Raveendran M, Hughes DST, Murali SC, Williams LE, Doddapaneni H, Muzny DM, Gibbs RA, Abee CR, Galinski MR, Worley KC, Rogers J, et al. Reproductive Longevity Predicts Mutation Rates in Primates. Current Biology : Cb. PMID 30270182 DOI: 10.1016/J.Cub.2018.08.050  1
2018 Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Medicine. 10: 74. PMID 30266093 DOI: 10.1186/S13073-018-0582-X  1
2018 Punetha J, Mackay-Loder L, Harel T, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Lee I, Terespolsky D, Lupski JR, Posey JE. Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Molecular Genetics and Metabolism. PMID 30249361 DOI: 10.1016/J.Ymgme.2018.08.005  1
2018 Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, ... Gibbs RA, et al. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. PMID 30108311 DOI: 10.1038/S41380-018-0112-7  1
2018 Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, ... Gibbs RA, et al. SYT1-associated neurodevelopmental disorder: a case series. Brain : a Journal of Neurology. PMID 30107533 DOI: 10.1093/Brain/Awy209  1
2018 Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, et al. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Human Genetics. PMID 30046887 DOI: 10.1007/S00439-018-1907-Y  1
2018 Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, et al. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. American Journal of Human Genetics. PMID 30032986 DOI: 10.1016/J.Ajhg.2018.06.009  1
2018 Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, et al. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Reports. 23: 3698. PMID 29925010 DOI: 10.1016/J.Celrep.2018.06.032  1
2018 Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EB, Murphy S, Chute CG, et al. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. Journal of the American Medical Informatics Association : Jamia. PMID 29860405 DOI: 10.1093/Jamia/Ocy051  1
2018 Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. American Journal of Human Genetics. PMID 29805043 DOI: 10.1016/J.Ajhg.2018.04.010  1
2018 Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, et al. Phenotypic expansion illuminates multilocus pathogenic variation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29790871 DOI: 10.1038/Gim.2018.33  1
2018 Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, ... Gibbs RA, et al. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. PMID 29784638 DOI: 10.1182/Blood-2017-12-824433  1
2018 Lindsey ARI, Kelkar YD, Wu X, Sun D, Martinson EO, Yan Z, Rugman-Jones PF, Hughes DST, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, ... ... Gibbs RA, et al. Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum. Bmc Biology. 16: 54. PMID 29776407 DOI: 10.1186/S12915-018-0520-9  1
2018 Macri V, Brody JA, Arking DE, Hucker WJ, Yin X, Lin H, Mills RW, Sinner MF, Lubitz SA, Liu CT, Morrison AC, Alonso A, Li N, Fedorov VV, Janssen PM, ... Gibbs RA, et al. Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circulation. Genomic and Precision Medicine. 11: e001663. PMID 29752399 DOI: 10.1161/CIRCGEN.116.001663  1
2018 Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, ... Gibbs RA, et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. European Journal of Human Genetics : Ejhg. PMID 29706646 DOI: 10.1038/S41431-018-0137-Z  1
2018 Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. American Journal of Medical Genetics. Part A. PMID 29696776 DOI: 10.1002/Ajmg.A.38699  1
2018 McMillan EA, Ryu MJ, Diep CH, Mendiratta S, Clemenceau JR, Vaden RM, Kim JH, Motoyaji T, Covington KR, Peyton M, Huffman K, Wu X, Girard L, Sung Y, Chen PH, ... ... Gibbs RA, et al. Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer. Cell. PMID 29681454 DOI: 10.1016/J.Cell.2018.03.028  1
2018 Poynton HC, Hasenbein S, Benoit JB, Sepulveda MS, Poelchau MF, Hughes DST, Murali SC, Chen S, Glastad KM, Goodisman MAD, Werren JH, Vineis JH, Bowen JL, Friedrich M, Jones J, ... ... Gibbs RA, et al. The Toxicogenome of Hyalella azteca: a model for sediment ecotoxicology and evolutionary toxicology. Environmental Science & Technology. PMID 29634279 DOI: 10.1021/Acs.Est.8B00837  1
2018 Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, ... ... Gibbs RA, et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. PMID 29632024 DOI: 10.1182/Blood-2017-11-814244  1
2018 Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, ... ... Gibbs RA, et al. The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia. Human Molecular Genetics. PMID 29618029 DOI: 10.1093/Hmg/Ddy110  1
2018 Feofanova EV, Yu B, Metcalf GA, Liu X, Muzny D, Below JE, Wagenknecht LE, Gibbs RA, Morrison AC, Boerwinkle E. Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. PMID 29610217 DOI: 10.1534/Genetics.118.300751  1
2018 Naval-Sanchez M, Nguyen Q, McWilliam S, Porto-Neto LR, Tellam R, Vuocolo T, Reverter A, Perez-Enciso M, Brauning R, Clarke S, McCulloch A, Zamani W, Naderi S, Rezaei HR, Pompanon F, ... ... Gibbs RA, et al. Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds. Nature Communications. 9: 859. PMID 29491421 DOI: 10.1038/S41467-017-02809-1  1
2018 Brammer DW, Gillespie PJ, Tian M, Young D, Raveendran M, Williams LE, Gagea M, Benavides FJ, Perez CJ, Broaddus RR, Bernacky BJ, Barnhart KF, Alauddin MM, Bhutani MS, Gibbs RA, et al. MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proceedings of the National Academy of Sciences of the United States of America. PMID 29490919 DOI: 10.1073/Pnas.1722106115  1
2018 Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, et al. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. American Journal of Medical Genetics. Part A. PMID 29436111 DOI: 10.1002/Ajmg.A.38625  1
2018 Harrison MC, Jongepier E, Robertson HM, Arning N, Bitard-Feildel T, Chao H, Childers CP, Dinh H, Doddapaneni H, Dugan S, Gowin J, Greiner C, Han Y, Hu H, Hughes DST, ... ... Gibbs RA, et al. Hemimetabolous genomes reveal molecular basis of termite eusociality. Nature Ecology & Evolution. PMID 29403074 DOI: 10.1038/S41559-017-0459-1  1
2018 Schoville SD, Chen YH, Andersson MN, Benoit JB, Bhandari A, Bowsher JH, Brevik K, Cappelle K, Chen MM, Childers AK, Childers C, Christiaens O, Clements J, Didion EM, Elpidina EN, ... Gibbs RA, et al. A model species for agricultural pest genomics: the genome of the Colorado potato beetle, Leptinotarsa decemlineata (Coleoptera: Chrysomelidae). Scientific Reports. 8: 1931. PMID 29386578 DOI: 10.1038/S41598-018-20154-1  1
2018 Ruiz-García R, Vargas-Hernandez A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, et al. Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment. The Journal of Allergy and Clinical Immunology. PMID 29330011 DOI: 10.1016/J.Jaci.2017.11.042  1
2018 Palesch D, Bosinger SE, Tharp GK, Vanderford TH, Paiardini M, Chahroudi A, Johnson ZP, Kirchhoff F, Hahn BH, Norgren RB, Patel NB, Sodora DL, Dawoud RA, Stewart CB, Seepo SM, ... Gibbs RA, et al. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 553: 77-81. PMID 29300007 DOI: 10.1038/Nature25140  1
2017 Matz LM, Kamdar KY, Holder ME, Metcalf GA, Weissenberger GM, Meng Q, Vee V, Han Y, Muzny DM, Gibbs RA, Johnson CL, Revell PA, Petrosino JF. Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagnostic Microbiology and Infectious Disease. PMID 29329757 DOI: 10.1016/J.Diagmicrobio.2017.11.023  1
2017 White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, ... Gibbs RA, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics. PMID 29276006 DOI: 10.1016/J.Ajhg.2017.10.002  1
2017 Landrock KK, Sullivan P, Martini-Stoica H, Goldstein DS, Graham BH, Yamamoto S, Bellen HJ, Gibbs RA, Chen R, D'Amelio M, Stoica G. Pleiotropic Neuropathological and Biochemical Alterations Associated with Myo5a Mutation in a Rat Model. Brain Research. PMID 29217155 DOI: 10.1016/J.Brainres.2017.11.029  1
2017 Nash AK, Auchtung TA, Wong MC, Smith DP, Gesell JR, Ross MC, Stewart CJ, Metcalf GA, Muzny DM, Gibbs RA, Ajami NJ, Petrosino JF. The gut mycobiome of the Human Microbiome Project healthy cohort. Microbiome. 5: 153. PMID 29178920 DOI: 10.1186/S40168-017-0373-4  1
2017 Garg PK, Norby FL, Polfus LM, Boerwinkle E, Gibbs RA, Grove ML, Folsom AR, Garimella PS, Matsushita K, Hoogeveen RC, Ballantyne CM. Lipoprotein-associated phospholipase A2 and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC). Atherosclerosis. 268: 12-18. PMID 29169030 DOI: 10.1016/J.Atherosclerosis.2017.11.007  1
2017 Larsen PA, Harris RA, Liu Y, Murali SC, Campbell CR, Brown AD, Sullivan BA, Shelton J, Brown SJ, Raveendran M, Dudchenko O, Machol I, Durand NC, Shamim MS, Aiden EL, ... ... Gibbs RA, et al. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). Bmc Biology. 15: 110. PMID 29145861 DOI: 10.1186/S12915-017-0439-6  1
2017 Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, ... ... Gibbs RA, et al. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Medicine. 9: 95. PMID 29089047 DOI: 10.1186/S13073-017-0482-5  1
2017 Brody JA, Morrison AC, Bis JC, O'Connell JR, Brown MR, Huffman JE, Ames DC, Carroll A, Conomos MP, Gabriel S, Gibbs RA, Gogarten SM, Gupta N, Jaquish CE, Johnson AD, et al. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nature Genetics. 49: 1560-1563. PMID 29074945 DOI: 10.1038/Ng.3968  1
2017 Hampton OA, English AC, Wang M, Salerno WJ, Liu Y, Muzny DM, Han Y, Wheeler DA, Worley KC, Lupski JR, Gibbs RA. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. Bmc Genomics. 18: 691. PMID 28984202 DOI: 10.1186/S12864-017-4021-Y  1
2017 Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, ... ... Gibbs RA, et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. Jama Pediatrics. e173438. PMID 28973083 DOI: 10.1001/Jamapediatrics.2017.3438  1
2017 Scarpa A, Chang DK, Nones K, Corbo V, Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, Rusev B, Scardoni M, Antonello D, Barbi S, Sikora KO, ... ... Gibbs RA, et al. Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. PMID 28953865 DOI: 10.1038/Nature24026  1
2017 Deverka PA, Majumder MA, Villanueva AG, Anderson M, Bakker AC, Bardill J, Boerwinkle E, Bubela T, Evans BJ, Garrison NA, Gibbs RA, Gentleman R, Glazer D, Goldstein MM, Greely H, et al. Creating a data resource: what will it take to build a medical information commons? Genome Medicine. 9: 84. PMID 28938910 DOI: 10.1186/S13073-017-0476-3  1
2017 Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, ... Gibbs RA, et al. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. European Journal of Human Genetics : Ejhg. PMID 28875981 DOI: 10.1038/Ejhg.2017.138  1
2017 de Vries PS, Yu B, Feofanova EV, Metcalf GA, Brown MR, Zeighami AL, Liu X, Muzny DM, Gibbs RA, Boerwinkle E, Morrison AC. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Human Molecular Genetics. 26: 3442-3450. PMID 28854705 DOI: 10.1093/Hmg/Ddx266  1
2017 Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. American Journal of Medical Genetics. Part A. PMID 28815944 DOI: 10.1002/Ajmg.A.38383  1
2017 Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, et al. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. Journal of Dental Research. 22034517724149. PMID 28813618 DOI: 10.1177/0022034517724149  1
2017 Pearce SL, Clarke DF, East PD, Elfekih S, Gordon KHJ, Jermiin LS, McGaughran A, Oakeshott JG, Papanicolaou A, Perera OP, Rane RV, Richards S, Tay WT, Walsh TK, Anderson A, ... Gibbs RA, et al. Erratum to: Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. Bmc Biology. 15: 69. PMID 28810920 DOI: 10.1186/S12915-017-0413-3  1
2017 Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, et al. Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circulation. Cardiovascular Genetics. 10. PMID 28798025 DOI: 10.1161/Circgenetics.117.001763  1
2017 Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, et al. Prevalence of spinocerebellar ataxia 36 in a US population. Neurology. Genetics. 3: e174. PMID 28761930 DOI: 10.1212/Nxg.0000000000000174  1
2017 Pearce SL, Clarke DF, East PD, Elfekih S, Gordon KHJ, Jermiin LS, McGaughran A, Oakeshott JG, Papanikolaou A, Perera OP, Rane RV, Richards S, Tay WT, Walsh TK, Anderson A, ... Gibbs RA, et al. Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. Bmc Biology. 15: 63. PMID 28756777 DOI: 10.1186/S12915-017-0402-6  1
2017 Schwager EE, Sharma PP, Clarke T, Leite DJ, Wierschin T, Pechmann M, Akiyama-Oda Y, Esposito L, Bechsgaard J, Bilde T, Buffry AD, Chao H, Dinh H, Doddapaneni H, Dugan S, ... ... Gibbs RA, et al. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. Bmc Biology. 15: 62. PMID 28756775 DOI: 10.1186/S12915-017-0399-X  1
2017 Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, ... ... Gibbs RA, et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. American Journal of Human Genetics. 101: 149-156. PMID 28686854 DOI: 10.1016/J.Ajhg.2017.06.006  1
2017 Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Molecular Genetics and Metabolism. PMID 28673551 DOI: 10.1016/J.Ymgme.2017.06.009  1
2017 Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, ... Gibbs RA, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Human Mutation. PMID 28649782 DOI: 10.1002/Humu.23282  1
2017 Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, ... ... Gibbs RA, et al. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A. PMID 28631899 DOI: 10.1002/Ajmg.A.38315  1
2017 Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Molecular Genetics and Metabolism Reports. 12: 57-61. PMID 28626639 DOI: 10.1016/J.Ymgmr.2017.06.002  1
2017 Rustagi N, Zhou A, Watkins WS, Gedvilaite E, Wang S, Ramesh N, Muzny D, Gibbs RA, Jorde LB, Yu F, Xing J. Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. Bmc Genomics. 18: 396. PMID 28532386 DOI: 10.1186/S12864-017-3767-6  1
2017 Sabo A, Mishra P, Dugan-Perez S, Voruganti VS, Kent JW, Kalra D, Cole SA, Comuzzie AG, Muzny DM, Gibbs RA, Butte NF. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring, Md.). PMID 28508493 DOI: 10.1002/Oby.21869  1
2017 Eyun SI, Young Soh H, Posavi M, Munro JB, Hughes DST, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, Doddapaneni H, Worley KC, Muzny DM, ... Gibbs RA, et al. Evolutionary History of Chemosensory-Related Gene Families Across the Arthropoda. Molecular Biology and Evolution. PMID 28460028 DOI: 10.1093/Molbev/Msx147  1
2017 Prall TM, Graham ME, Karl JA, Wiseman RW, Ericsen AJ, Raveendran M, Alan Harris R, Muzny DM, Gibbs RA, Rogers J, O'Connor DH. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. PMID 28343239 DOI: 10.1007/S00251-017-0977-7  1
2017 Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, ... ... Gibbs RA, et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Medicine. 9: 26. PMID 28327206 DOI: 10.1186/S13073-017-0412-6  1
2017 Eicher JD, Chen MH, Pitsillides AN, Lin H, Veeraraghavan N, Brody JA, Metcalf GA, Muzny DM, Gibbs RA, Becker DM, Becker LC, Faraday N, Mathias RA, Yanek LR, Boerwinkle E, et al. Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. Thrombosis and Haemostasis. PMID 28300864 DOI: 10.1160/Th16-09-0677  1
2017 Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, et al. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harbor Molecular Case Studies. 3: a000984. PMID 28299356 DOI: 10.1101/mcs.a000984  1
2017 Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics. PMID 28288113 DOI: 10.1038/Ng.3815  1
2017 Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, et al. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. The Journal of Clinical Investigation. PMID 28263186 DOI: 10.1172/Jci90193  1
2017 Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, Agrawal SA, Li Y, Daiger SP, Gibbs R, Wang F, Chen R. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. Bmc Bioinformatics. 18: 147. PMID 28253855 DOI: 10.1186/S12859-017-1566-3  1
2017 Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, ... Gibbs RA, et al. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 168: 830-842.e7. PMID 28235197 DOI: 10.1016/J.Cell.2017.01.037  1
2017 Scarpa A, Chang DK, Nones K, Corbo V, Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, Rusev B, Scardoni M, Antonello D, Barbi S, Sikora KO, ... Gibbs RA, et al. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. PMID 28199314 DOI: 10.1038/Nature21063  1
2017 Papanicolaou A, Schetelig MF, Arensburger P, Atkinson PW, Benoit JB, Bourtzis K, Castañera P, Cavanaugh JP, Chao H, Childers C, Curril I, Dinh H, Doddapaneni H, Dolan A, Dugan S, ... Gibbs RA, et al. Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biology. 18: 11. PMID 28100280 DOI: 10.1186/S13059-017-1155-9  1
2017 Morrison AC, Huang Z, Yu B, Metcalf G, Liu X, Ballantyne C, Coresh J, Yu F, Muzny D, Feofanova E, Rustagi N, Gibbs R, Boerwinkle E. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. American Journal of Human Genetics. PMID 28089252 DOI: 10.1016/J.Ajhg.2016.12.009  1
2017 Chen C, Cheng L, Gunaratne P, Gibbs R, Coarfa C, Reid J, Zhang C, Meng Q, Xia Y, Wang K, Badner J, Gershon E, Liu C. Cascade Tf-Mirna-Mrna Regulations Identified By Co-Expression Network Modules In Brains Of Patients With Schizophrenia And Bipolar Disorder European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.541  1
2016 Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. Journal of Human Genetics. PMID 28003643 DOI: 10.1038/Jhg.2016.151  1
2016 Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, ... ... Gibbs RA, et al. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research. PMID 27980096 DOI: 10.1093/Nar/Gkw1237  1
2016 Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. The New England Journal of Medicine. PMID 27959697 DOI: 10.1056/Nejmoa1516767  1
2016 Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Rio Deiros D, Below JE, Salerno W, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, ... ... Gibbs RA, et al. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Research. 26: 1651-1662. PMID 27934697 DOI: 10.1101/Gr.204255.116  1
2016 Temple KJ, Wright EN, Fierke CA, Gibbs RA. Synthesis of Non-natural, Frame-Shifted Isoprenoid Diphosphate Analogues. Organic Letters. 18: 6038-6041. PMID 27934359 DOI: 10.1021/Acs.Orglett.6B02977  1
2016 Polfus LM, Boerwinkle E, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SS, Gupta-Malhotra M. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harbor Molecular Case Studies. 2: a001255. PMID 27900368 DOI: 10.1101/mcs.a001255  1
2016 Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, ... Gibbs RA, et al. A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Molecular Genetics & Genomic Medicine. 4: 604-616. PMID 27896283 DOI: 10.1002/Mgg3.237  1
2016 Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Stray-Pedersen A, Coban Akdemir Z, ... ... Gibbs RA, et al. Biallelic mutations in IRF8 impair human NK cell maturation and function. The Journal of Clinical Investigation. PMID 27893462 DOI: 10.1172/Jci86276  1
2016 Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, et al. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. American Journal of Medical Genetics. Part A. PMID 27888646 DOI: 10.1002/Ajmg.A.38059  1
2016 Yu B, de Vries PS, Metcalf GA, Wang Z, Feofanova EV, Liu X, Muzny DM, Wagenknecht LE, Gibbs RA, Morrison AC, Boerwinkle E. Whole genome sequence analysis of serum amino acid levels. Genome Biology. 17: 237. PMID 27884205 DOI: 10.1186/S13059-016-1106-X  1
2016 McKenna DD, Scully ED, Pauchet Y, Hoover K, Kirsch R, Geib SM, Mitchell RF, Waterhouse RM, Ahn SJ, Arsala D, Benoit JB, Blackmon H, Bledsoe T, Bowsher JH, Busch A, ... ... Gibbs RA, et al. Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface. Genome Biology. 17: 227. PMID 27832824 DOI: 10.1186/S13059-016-1088-8  1
2016 Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, ... ... Gibbs RA, et al. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Medicine. 8: 105. PMID 27799067 DOI: 10.1186/S13073-016-0359-Z  1
2016 Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, ... ... Gibbs RA, et al. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Medicine. 8: 106. PMID 27799064 DOI: 10.1186/S13073-016-0360-6  1
2016 Potter SL, Venkatramani R, Wenderfer S, Graham BH, Vasudevan SA, Sher A, Wu H, Wheeler DA, Yang Y, Eng CM, Gibbs RA, Roy A, Plon SE, Parsons DW. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatric Blood & Cancer. PMID 27748010 DOI: 10.1002/Pbc.26286  1
2016 Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, ... ... Gibbs RA, et al. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27657687 DOI: 10.1038/Gim.2016.131  1
2016 Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, ... Gibbs RA, et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. American Journal of Human Genetics. PMID 27640307 DOI: 10.1016/J.Ajhg.2016.08.007  1
2016 Hsu YH, Li G, Liu CT, Brody JA, Karasik D, Chou WC, Demissie S, Nandakumar K, Zhou Y, Cheng CH, Gill R, Gibbs RA, Muzny D, Santibanez J, Estrada K, et al. Targeted Sequencing of Genome Wide Significant Loci Associated with Bone Mineral Density (BMD) Reveals Significant Novel and Rare Variants: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Human Molecular Genetics. PMID 27616567 DOI: 10.1093/Hmg/Ddw289  1
2016 Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, ... ... Gibbs RA, et al. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. American Journal of Human Genetics. PMID 27616478 DOI: 10.1016/J.Ajhg.2016.07.011  1
2016 Sun Z, Mehta SC, Adamski CJ, Gibbs RA, Palzkill T. Deep Sequencing of Random Mutant Libraries Reveals the Active Site of the Narrow Specificity CphA Metallo-β-Lactamase is Fragile to Mutations. Scientific Reports. 6: 33195. PMID 27616327 DOI: 10.1038/Srep33195  1
2016 Huang Z, Rustagi N, Veeraraghavan N, Carroll A, Gibbs R, Boerwinkle E, Venkata MG, Yu F. A hybrid computational strategy to address WGS variant analysis in >5000 samples. Bmc Bioinformatics. 17: 361. PMID 27612449 DOI: 10.1186/S12859-016-1211-6  1
2016 Yu B, Li AH, Metcalf GA, Muzny DM, Morrison AC, White S, Mosley TH, Gibbs RA, Boerwinkle E. Loss-of-function variants influence the human serum metabolome. Science Advances. 2: e1600800. PMID 27602404 DOI: 10.1126/Sciadv.1600800  1
2016 Lubitz SA, Brody JA, Bihlmeyer NA, Roselli C, Weng LC, Christophersen IE, Alonso A, Boerwinkle E, Gibbs RA, Bis JC, Cupples LA, Mohler PJ, Nickerson DA, Muzny D, et al. Whole Exome Sequencing in Atrial Fibrillation. Plos Genetics. 12: e1006284. PMID 27589061 DOI: 10.1371/Journal.Pgen.1006284  1
2016 Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, et al. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. American Journal of Human Genetics. 99: 785. PMID 27588453 DOI: 10.1016/J.Ajhg.2016.08.002  1
2016 Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, ... ... Gibbs RA, et al. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. The Journal of Allergy and Clinical Immunology. PMID 27577878 DOI: 10.1016/J.Jaci.2016.05.042  1
2016 Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, et al. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. American Journal of Human Genetics. 99: 481-488. PMID 27486782 DOI: 10.1016/J.Ajhg.2016.06.016  1
2016 Methner DN, Scherer SE, Welch K, Walkiewicz M, Eng CM, Belmont JW, Powell MC, Wolf DA, Sanchez LA, Kahn R. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Research. PMID 27435932 DOI: 10.1101/Gr.195800.115  1
2016 Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Bmc Medical Genomics. 9: 42. PMID 27435318 DOI: 10.1186/S12920-016-0208-3  1
2016 McGuire A, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, et al. The ethics of conducting molecular autopsies in the cases of sudden death in the young. Genome Research. PMID 27412853 DOI: 10.1101/Gr.192401.115  1
2016 Bakken TE, Miller JA, Ding SL, Sunkin SM, Smith KA, Ng L, Szafer A, Dalley RA, Royall JJ, Lemon T, Shapouri S, Aiona K, Arnold J, Bennett JL, Bertagnolli D, ... ... Gibbs RA, et al. A comprehensive transcriptional map of primate brain development. Nature. PMID 27409810 DOI: 10.1038/Nature18637  1
2016 Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatric Neurology. 60: 83-7. PMID 27343026 DOI: 10.1016/J.Pediatrneurol.2016.03.011  1
2016 Temple KJ, Wright EN, Fierke CA, Gibbs RA. Exploration of GGTase-I substrate requirements. Part 2: Synthesis and biochemical analysis of novel saturated geranylgeranyl diphosphate analogs. Bioorganic & Medicinal Chemistry Letters. PMID 27342751 DOI: 10.1016/J.Bmcl.2016.06.035  1
2016 Temple KJ, Wright EN, Fierke CA, Gibbs RA. Exploration of GGTase-I substrate requirements. Part 1: Synthesis and biochemical evaluation of novel aryl-modified geranylgeranyl diphosphate analogs. Bioorganic & Medicinal Chemistry Letters. PMID 27342750 DOI: 10.1016/J.Bmcl.2016.06.034  1
2016 Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man TK, Plon SE, Gibbs RA, Lau CC. SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code For Biology and Medicine. 11: 8. PMID 27330550 DOI: 10.1186/s13029-016-0051-0  1
2016 Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Two male sibs with severe micrognathia and a missense variant in MED12. European Journal of Medical Genetics. 59: 367-372. PMID 27286923 DOI: 10.1016/J.Ejmg.2016.06.001  1
2016 Foote AD, Vijay N, Ávila-Arcos MC, Baird RW, Durban JW, Fumagalli M, Gibbs RA, Hanson MB, Korneliussen TS, Martin MD, Robertson KM, Sousa VC, Vieira FG, Vinař T, Wade P, et al. Genome-culture coevolution promotes rapid divergence of killer whale ecotypes. Nature Communications. 7: 11693. PMID 27243207 DOI: 10.1038/Ncomms11693  1
2016 Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27171548 DOI: 10.1038/Gim.2016.42  1
2016 Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). American Journal of Medical Genetics. Part A. PMID 27170158 DOI: 10.1002/Ajmg.A.37727  1
2016 Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, ... ... Gibbs RA, et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. Jama Neurology. PMID 27159400 DOI: 10.1001/Jamaneurol.2016.0363  1
2016 Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern. Human Mutation. PMID 27159028 DOI: 10.1002/Humu.23012  1
2016 Ozantürk A, Davis EE, Sabo A, Weiss MM, Muzny D, Dugan-Perez S, Sistermans EA, Gibbs RA, Özgül KR, Yalnızoglu D, Serdaroglu E, Dursun A, Katsanis N. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harbor Molecular Case Studies. 2: a000703. PMID 27148584 DOI: 10.1101/mcs.a000703  1
2016 Rustagi N, Hampton OA, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DA. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. Bmc Bioinformatics. 17: 188. PMID 27121965 DOI: 10.1186/S12859-016-1031-8  1
2016 Hoy MA, Waterhouse RM, Wu K, Estep AS, Ioannidis P, Palmer WJ, Pomerantz AF, Simão FA, Thomas J, Jiggins FM, Murphy TD, Pritham EJ, Robertson HM, Zdobnov EM, Gibbs RA, et al. Genome sequencing of the phytoseiid predatory mite Metaseiulus occidentalis reveals completely atomised Hox genes and super-dynamic intron evolution. Genome Biology and Evolution. PMID 26951779 DOI: 10.1093/Gbe/Evw048  1
2016 Chen F, Zhang Y, Şenbabaoğlu Y, Ciriello G, Yang L, Reznik E, Shuch B, Micevic G, De Velasco G, Shinbrot E, Noble MS, Lu Y, Covington KR, Xi L, Drummond JA, ... ... Gibbs RA, et al. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Reports. PMID 26947078 DOI: 10.1016/J.Celrep.2016.02.024  1
2016 Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, ... ... Gibbs RA, et al. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. American Journal of Human Genetics. 98: 562-570. PMID 26942288 DOI: 10.1016/J.Ajhg.2016.01.011  1
2016 White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, et al. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. American Journal of Human Genetics. PMID 26924530 DOI: 10.1016/J.Ajhg.2016.01.005  1
2016 Saliba J, Zabriskie R, Ghosh R, Powell BC, Hicks S, Kimmel M, Meng Q, Ritter DI, Wheeler DA, Gibbs RA, Tsai FT, Plon SE. Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenetics and Genomics. PMID 26906009 DOI: 10.1097/Fpc.0000000000000208  1
2016 Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, ... ... Gibbs RA, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nature Communications. 7: 10713. PMID 26888176 DOI: 10.1038/Ncomms10713  1
2016 Becnel LB, Pereira S, Drummond JA, Gingras MC, Covington KR, Kovar CL, Doddapaneni HV, Hu J, Muzny D, McGuire AL, Wheeler DA, Gibbs RA. An open access pilot freely sharing cancer genomic data from participants in Texas. Scientific Data. 3: 160010. PMID 26882539 DOI: 10.1038/Sdata.2016.10  1
2016 Willems SM, Cornes BK, Brody JA, Morrison AC, Lipovich L, Dauriz M, Chen Y, Liu CT, Rybin DV, Gibbs RA, Muzny D, Pankow JS, Psaty BM, Boerwinkle E, Rotter JI, et al. Association of the IGF1 gene with fasting insulin levels. European Journal of Human Genetics : Ejhg. PMID 26860063 DOI: 10.1038/Ejhg.2016.4  1
2016 Benoit JB, Adelman ZN, Reinhardt K, Dolan A, Poelchau M, Jennings EC, Szuter EM, Hagan RW, Gujar H, Shukla JN, Zhu F, Mohan M, Nelson DR, Rosendale AJ, Derst C, ... ... Gibbs RA, et al. Unique features of a global human ectoparasite identified through sequencing of the bed bug genome. Nature Communications. 7: 10165. PMID 26836814 DOI: 10.1038/Ncomms10165  1
2016 Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, ... ... Gibbs RA, et al. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. Jama Oncology. PMID 26822237 DOI: 10.1001/Jamaoncol.2015.5699  1
2016 Rio Deiros D, Gibbs RA, Rogers J. DNAism: exploring genomic datasets on the web with Horizon Charts. Bmc Bioinformatics. 17: 49. PMID 26819101 DOI: 10.1186/S12859-016-0891-2  1
2016 Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, ... ... Gibbs RA, et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. American Journal of Human Genetics. PMID 26805781 DOI: 10.1016/J.Ajhg.2015.12.008  1
2016 Gingras MC, Covington KR, Chang DK, Donehower LA, Gill AJ, Ittmann MM, Creighton CJ, Johns AL, Shinbrot E, Dewal N, Fisher WE, Pilarsky C, Grützmann R, Overman MJ, ... ... Gibbs RA, et al. Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation. Cell Reports. PMID 26804919 DOI: 10.1016/J.Celrep.2015.12.005  1
2016 Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, et al. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Molecular Genetics & Genomic Medicine. 4: 77-94. PMID 26788539 DOI: 10.1002/Mgg3.181  1
2016 Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, ... ... Gibbs RA, et al. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. The Journal of Clinical Investigation. PMID 26752647 DOI: 10.1172/Jci84457  1
2016 White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, ... ... Gibbs RA, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Medicine. 8: 3. PMID 26739615 DOI: 10.1186/S13073-015-0253-0  1
2016 Tuysuz B, Pehlivan D, Özkök A, Jhangiani S, Yalcinkaya C, Zeybek ÇA, Muzny DM, Lupski JR, Gibbs R, Jaeken J. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. Jimd Reports. 26: 7-12. PMID 26219881 DOI: 10.1007/8904_2015_478  1
2016 Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Nuchtern JG, Ramamurthy U, McGuire AL, ... ... Gibbs RA, et al. Abstract IA16: Clinical genomics for children with solid tumors: Current realities and future opportunities Clinical Cancer Research. 22. DOI: 10.1158/1557-3265.Pmsclingen15-Ia16  1
2016 Bavle A, Wang T, Lin FY, Roy A, Kerstein RA, Scollon S, Bergstrom K, Gutierrez S, Ramamurthy U, Yang Y, Eng CM, Gibbs RA, Chintagumpala MM, Hilsenbeck SG, Plon SE, et al. Abstract 04: Impact of whole exome sequencing results on clinical decision making for pediatric solid tumor patients in the hypothetical scenario of tumor relapse: A survey of pediatric oncologists Clinical Cancer Research. 22: 4-4. DOI: 10.1158/1557-3265.Pmsclingen15-04  1
2015 Jennings BC, Danowitz AM, Wang YC, Gibbs RA, Distefano MD, Fierke CA. Analogs of farnesyl diphosphate alter CaaX substrate specificity and reactions rates of protein farnesyltransferase. Bioorganic & Medicinal Chemistry Letters. PMID 26803203 DOI: 10.1016/J.Bmcl.2015.12.079  1
2015 Campbell IM, Gambin T, Jhanghiani S, Grove ML, Veeraraghavan N, Muzny D, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Human Mutation. PMID 26670213 DOI: 10.1002/Humu.22944  1
2015 Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, ... ... Gibbs RA, et al. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circulation. Cardiovascular Genetics. PMID 26658788 DOI: 10.1161/Circgenetics.115.001215  1
2015 Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, ... ... Gibbs RA, et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. American Journal of Human Genetics. 97: 904-13. PMID 26637980 DOI: 10.1016/J.Ajhg.2015.11.006  1
2015 Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, ... ... Gibbs RA, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26633545 DOI: 10.1038/Gim.2015.142  1
2015 Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, et al. Whole-Exome Sequencing in Familial Parkinson Disease. Jama Neurology. 1-8. PMID 26595808 DOI: 10.1001/Jamaneurol.2015.3266  1
2015 Simakov O, Kawashima T, Marlétaz F, Jenkins J, Koyanagi R, Mitros T, Hisata K, Bredeson J, Shoguchi E, Gyoja F, Yue JX, Chen YC, Freeman RM, Sasaki A, Hikosaka-Katayama T, ... ... Gibbs RA, et al. Hemichordate genomes and deuterostome origins. Nature. PMID 26580012 DOI: 10.1038/Nature16150  1
2015 Wang L, Ni X, Covington KR, Yang BY, Shiu J, Zhang X, Xi L, Meng Q, Langridge T, Drummond J, Donehower LA, Doddapaneni H, Muzny DM, Gibbs RA, Wheeler DA, et al. Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes. Nature Genetics. PMID 26551670 DOI: 10.1038/Ng.3444  1
2015 Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, ... ... Gibbs RA, et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 88: 499-513. PMID 26539891 DOI: 10.1016/J.Neuron.2015.09.048  1
2015 Bechsgaard J, Vanthournout B, Funch P, Vestbo S, Gibbs RA, Richards S, Sanggaard KW, Enghild JJ, Bilde T. Comparative genomic study of arachnid immune systems indicates loss of βGRPs and the IMD pathway. Journal of Evolutionary Biology. PMID 26528622 DOI: 10.1111/Jeb.12780  1
2015 McCullough LB, Slashinski MJ, McGuire AL, Street RL, Eng CM, Gibbs RA, Parsons DW, Plon SE. Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatric Blood & Cancer. PMID 26505993 DOI: 10.1002/Pbc.25815  1
2015 Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... Gibbs RA, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394  1
2015 Liu X, White S, Peng B, Johnson AD, Brody JA, Li AH, Huang Z, Carroll A, Wei P, Gibbs R, Klein RJ, Boerwinkle E. WGSA: an annotation pipeline for human genome sequencing studies. Journal of Medical Genetics. PMID 26395054 DOI: 10.1136/Jmedgenet-2015-103423  1
2015 Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26378787 DOI: 10.1038/Gim.2015.124  1
2015 Hollister EB, Riehle K, Luna RA, Weidler EM, Rubio-Gonzales M, Mistretta TA, Raza S, Doddapaneni HV, Metcalf GA, Muzny DM, Gibbs RA, Petrosino JF, Shulman RJ, Versalovic J. Structure and function of the healthy pre-adolescent pediatric gut microbiome. Microbiome. 3: 36. PMID 26306392 DOI: 10.1186/S40168-015-0101-X  1
2015 Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. 36: 915-21. PMID 26295439 DOI: 10.1002/Humu.22858  1
2015 Atkins LM, Holder ME, Ajami NJ, Metcalf GA, Weissenberger GM, Wang M, Vee V, Han Y, Muzny DM, Gibbs RA, Petrosino JF. High-Quality Draft Genome Sequence of Francisella tularensis subsp. holarctica Strain OR96-0246. Genome Announcements. 3. PMID 26272574 DOI: 10.1128/Genomea.00898-15  1
2015 Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, ... ... Gibbs RA, et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12: 1169-83. PMID 26257172 DOI: 10.1016/J.Celrep.2015.07.023  1
2015 Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. American Journal of Medical Genetics. Part A. 167: 2795-9. PMID 26238661 DOI: 10.1002/Ajmg.A.37263  1
2015 Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Medicine. 7: 54. PMID 26195989 DOI: 10.1186/S13073-015-0171-1  1
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Gibbs RA, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009  1
2015 Anstead CA, Korhonen PK, Young ND, Hall RS, Jex AR, Murali SC, Hughes DS, Lee SF, Perry T, Stroehlein AJ, Ansell BR, Breugelmans B, Hofmann A, Qu J, Dugan S, ... ... Gibbs RA, et al. Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions. Nature Communications. 6: 7344. PMID 26108605 DOI: 10.1038/Ncomms8344  1
2015 Ostrowski EA, Shen Y, Tian X, Sucgang R, Jiang H, Qu J, Katoh-Kurasawa M, Brock DA, Dinh C, Lara-Garduno F, Lee SL, Kovar CL, Dinh HH, Korchina V, Jackson L, ... ... Gibbs RA, et al. Genomic Signatures of Cooperation and Conflict in the Social Amoeba. Current Biology : Cb. 25: 1661-5. PMID 26051890 DOI: 10.1016/J.Cub.2015.04.059  1
2015 Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny D, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs R, Jefferies JL. Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction. Circulation. Cardiovascular Genetics. PMID 26025024 DOI: 10.1161/Circgenetics.115.001026  1
2015 Zhao F, Darling JE, Gibbs RA, Hougland JL. A new class of ghrelin O-acyltransferase inhibitors incorporating triazole-linked lipid mimetic groups. Bioorganic & Medicinal Chemistry Letters. 25: 2800-3. PMID 26009163 DOI: 10.1016/J.Bmcl.2015.05.009  1
2015 Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. American Journal of Human Genetics. 96: 841-9. PMID 25957469 DOI: 10.1016/J.Ajhg.2015.04.004  1
2015 Ramasamy R, Bak?rc?o?lu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertility and Sterility. PMID 25956372 DOI: 10.1016/J.Fertnstert.2015.04.001  1
2015 Li AH, Morrison AC, Kovar C, Cupples LA, Brody JA, Polfus LM, Yu B, Metcalf G, Muzny D, Veeraraghavan N, Liu X, Lumley T, Mosley TH, Gibbs RA, Boerwinkle E. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nature Genetics. 47: 640-2. PMID 25915599 DOI: 10.1038/Ng.3270  1
2015 Gibbs RA, Hoskins C, Effler PV. Children with no vaccinations recorded on the Australian Childhood Immunisation Register. Australian and New Zealand Journal of Public Health. 39: 294-5. PMID 25903350 DOI: 10.1111/1753-6405.12354  1
2015 Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, ... ... Gibbs RA, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics. 47: 654-60. PMID 25894502 DOI: 10.1038/Ng.3279  1
2015 Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Human Genetics. 134: 671-3. PMID 25893792 DOI: 10.1007/S00439-015-1548-3  1
2015 Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. Bmc Genomics. 16: 214. PMID 25887218 DOI: 10.1186/S12864-015-1370-2  1
2015 English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, ... ... Gibbs RA, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. Bmc Genomics. 16: 286. PMID 25886820 DOI: 10.1186/S12864-015-1479-3  1
2015 Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics. Part A. 167: 1309-14. PMID 25846959 DOI: 10.1002/Ajmg.A.36899  1
2015 Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. American Journal of Medical Genetics. Part A. PMID 25846457 DOI: 10.1002/Ajmg.A.37092  1
2015 White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, ... ... Gibbs RA, et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. American Journal of Human Genetics. 96: 612-22. PMID 25817016 DOI: 10.1016/J.Ajhg.2015.02.015  1
2015 Yu F, Lu J, Liu X, Gazave E, Chang D, Raj S, Hunter-Zinck H, Blekhman R, Arbiza L, Van Hout C, Morrison A, Johnson AD, Bis J, Cupples LA, Psaty BM, ... ... Gibbs RA, et al. Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. Plos One. 10: e0121644. PMID 25807536 DOI: 10.1371/Journal.Pone.0121644  1
2015 Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, ... ... Gibbs RA, et al. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 100: E808-14. PMID 25774885 DOI: 10.1210/Jc.2015-1150  1
2015 Challis D, Antunes L, Garrison E, Banks E, Evani US, Muzny D, Poplin R, Gibbs RA, Marth G, Yu F. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. Bmc Genomics. 16: 143. PMID 25765891 DOI: 10.1186/S12864-015-1333-7  1
2015 Ross MC, Muzny DM, McCormick JB, Gibbs RA, Fisher-Hoch SP, Petrosino JF. 16S gut community of the Cameron County Hispanic Cohort. Microbiome. 3: 7. PMID 25763184 DOI: 10.1186/S40168-015-0072-Y  1
2015 Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, et al. FBN1 contributing to familial congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A. 167: 831-6. PMID 25736269 DOI: 10.1002/Ajmg.A.36960  1
2015 Cameron RA, Kudtarkar P, Gordon SM, Worley KC, Gibbs RA. Do echinoderm genomes measure up? Marine Genomics. 22: 1-9. PMID 25701080 DOI: 10.1016/J.Margen.2015.02.004  1
2015 Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R. Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. Ophthalmic Genetics. 1-6. PMID 25687216 DOI: 10.3109/13816810.2015.1010736  1
2015 McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, ... ... Gibbs RA, et al. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry. 20: 176-82. PMID 25666757 DOI: 10.1038/Mp.2014.189  1
2015 Jalali A, Amirian ES, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, ... ... Gibbs RA, et al. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Scientific Reports. 5: 8278. PMID 25652157 DOI: 10.1038/Srep08278  1
2015 Foote AD, Liu Y, Thomas GW, Vina? T, Alföldi J, Deng J, Dugan S, van Elk CE, Hunter ME, Joshi V, Khan Z, Kovar C, Lee SL, Lindblad-Toh K, Mancia A, ... ... Gibbs RA, et al. Convergent evolution of the genomes of marine mammals. Nature Genetics. 47: 272-5. PMID 25621460 DOI: 10.1038/Ng.3198  1
2015 Polfus LM, Gibbs RA, Boerwinkle E. Coronary heart disease and genetic variants with low phospholipase A2 activity. The New England Journal of Medicine. 372: 295-6. PMID 25587968 DOI: 10.1056/Nejmc1409673  1
2015 Yu B, Li AH, Muzny D, Veeraraghavan N, de Vries PS, Bis JC, Musani SK, Alexander D, Morrison AC, Franco OH, Uitterlinden A, Hofman A, Dehghan A, Wilson JG, Psaty BM, ... Gibbs R, et al. Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease. Circulation. Cardiovascular Genetics. 8: 351-5. PMID 25575548 DOI: 10.1161/Circgenetics.114.000697  1
2015 Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, ... ... Gibbs RA, et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. The Journal of Clinical Investigation. 125: 636-51. PMID 25574841 DOI: 10.1172/Jci77435  1
2015 Ritter DI, Haines K, Cheung H, Davis CF, Lau CC, Berg JS, Brown CW, Thompson PA, Gibbs R, Wheeler DA, Plon SE. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25569436 DOI: 10.1038/Gim.2014.189  1
2015 Darling JE, Zhao F, Loftus RJ, Patton LM, Gibbs RA, Hougland JL. Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition. Biochemistry. 54: 1100-10. PMID 25562443 DOI: 10.1021/Bi5010359  1
2015 Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, Liu X. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Human Molecular Genetics. 24: 2125-37. PMID 25552646 DOI: 10.1093/Hmg/Ddu733  1
2015 Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, ... ... Gibbs RA, et al. Germline mutations in shelterin complex genes are associated with familial glioma. Journal of the National Cancer Institute. 107: 384. PMID 25482530 DOI: 10.1093/Jnci/Dju384  1
2015 Peng X, Thierry-Mieg J, Thierry-Mieg D, Nishida A, Pipes L, Bozinoski M, Thomas MJ, Kelly S, Weiss JM, Raveendran M, Muzny D, Gibbs RA, Rogers J, Schroth GP, Katze MG, et al. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR). Nucleic Acids Research. 43: D737-42. PMID 25392405 DOI: 10.1093/Nar/Gku1110  1
2015 Riveiro-Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, et al. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. Jama Ophthalmology. 133: 133-9. PMID 25356532 DOI: 10.1001/Jamaophthalmol.2014.4266  1
2015 Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, ... ... Gibbs RA, et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: E140-7. PMID 25322266 DOI: 10.1210/Jc.2014-1984  1
2015 Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, ... ... Gibbs R, et al. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Human Molecular Genetics. 24: 559-71. PMID 25187575 DOI: 10.1093/Hmg/Ddu450  1
2015 Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. European Journal of Human Genetics : Ejhg. 23: 342-6. PMID 24986830 DOI: 10.1038/Ejhg.2014.107  1
2015 Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, ... ... Gibbs RA, et al. Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome Journal of Clinical Endocrinology and Metabolism. 100: E140-E147. DOI: 10.1210/jc.20141984  1
2015 Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample Genome Medicine. 7. DOI: 10.1186/s13073-015-0171-1  1
2015 Westbrook TF, Nair A, Sun T, Karlin KL, Kessler J, Migliaccio I, Nguyen DX, Bernardi RJ, Renwick A, Creighton CJ, Dephoure N, Gygi SP, Shaw CA, Gibbs R, Wheeler D, et al. Abstract P6-11-01: A broad spectrum therapeutic strategy for TNBC revealed by a new pathway that coordinates oncogenic RTKs Cancer Research. 75. DOI: 10.1158/1538-7445.Sabcs14-P6-11-01  1
2015 Gingras M, Johns A, Gill A, Overman M, Pilarsky C, Grimmond S, Biankin A, Wheeler D, Gibbs R. Abstract PR06: The ampullary adenocarcinoma, its molecular characterization and differentiation from the pancreatic ductal adenocarcinoma, duodenal adenocarcinoma, and cholangiocarcinoma Cancer Research. 75. DOI: 10.1158/1538-7445.Panca2014-Pr06  1
2015 Hampton OA, Rustagi N, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DA. Abstract 4856: ITD Assembler: An algorithm for internal tandem duplication discovery from short-read sequencing data Cancer Research. 75: 4856-4856. DOI: 10.1158/1538-7445.Am2015-4856  1
2015 Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Gibbs RA, et al. Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment Obstetrical and Gynecological Survey. 70: 164-167. DOI: 10.1097/01.Ogx.0000462915.64193.1B  1
2015 Auton A, Abecasis GR, Altshuler DM, Durbin RM, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, et al. A global reference for human genetic variation Nature. 526: 68-74. DOI: 10.1038/nature15393  1
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, CobanAkdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Gibbs RA, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.06.009  1
2015 Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37263  1
2014 Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, ... ... Gibbs RA, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. American Journal of Human Genetics. 95: 579-83. PMID 25439098 DOI: 10.1016/J.Ajhg.2014.09.014  1
2014 Ericsen AJ, Starrett GJ, Greene JM, Lauck M, Raveendran M, Deiros DR, Mohns MS, Vince N, Cain BT, Pham NH, Weinfurter JT, Bailey AL, Budde ML, Wiseman RW, Gibbs R, et al. Whole genome sequencing of SIV-infected macaques identifies candidate loci that may contribute to host control of virus replication. Genome Biology. 15: 478. PMID 25418588 DOI: 10.1186/S13059-014-0478-Z  1
2014 . Integrated genomic characterization of papillary thyroid carcinoma. Cell. 159: 676-90. PMID 25417114 DOI: 10.1016/J.Cell.2014.09.050  1
2014 Totoki Y, Tatsuno K, Covington KR, Ueda H, Creighton CJ, Kato M, Tsuji S, Donehower LA, Slagle BL, Nakamura H, Yamamoto S, Shinbrot E, Hama N, Lehmkuhl M, Hosoda F, ... ... Gibbs RA, et al. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nature Genetics. 46: 1267-73. PMID 25362482 DOI: 10.1038/Ng.3126  1
2014 Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. Plos One. 9: e110740. PMID 25360671 DOI: 10.1371/Journal.Pone.0110740  1
2014 Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Gibbs RA, et al. Molecular findings among patients referred for clinical whole-exome sequencing. Jama. 312: 1870-9. PMID 25326635 DOI: 10.1001/Jama.2014.14601  1
2014 Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Medicine. 6: 69. PMID 25317207 DOI: 10.1186/S13073-014-0069-3  1
2014 Pickering CR, Zhou JH, Lee JJ, Drummond JA, Peng SA, Saade RE, Tsai KY, Curry JL, Tetzlaff MT, Lai SY, Yu J, Muzny DM, Doddapaneni H, Shinbrot E, Covington KR, ... ... Gibbs RA, et al. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 20: 6582-92. PMID 25303977 DOI: 10.1158/1078-0432.Ccr-14-1768  1
2014 Morrison AC, Bis JC, Hwang SJ, Ehret GB, Lumley T, Rice K, Muzny D, Gibbs RA, Boerwinkle E, Psaty BM, Chakravarti A, Levy D. Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Plos One. 9: e109155. PMID 25275628 DOI: 10.1371/Journal.Pone.0109155  1
2014 Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, ... ... Gibbs RA, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/J.Cell.2014.09.002  1
2014 Shinbrot E, Henninger EE, Weinhold N, Covington KR, Göksenin AY, Schultz N, Chao H, Doddapaneni H, Muzny DM, Gibbs RA, Sander C, Pursell ZF, Wheeler DA. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Research. 24: 1740-50. PMID 25228659 DOI: 10.1101/Gr.174789.114  1
2014 Boonma P, Spinler JK, Qin X, Jittaprasatsin C, Muzny DM, Doddapaneni H, Gibbs R, Petrosino J, Tumwasorn S, Versalovic J. Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35. Standards in Genomic Sciences. 9: 744-54. PMID 25197459 DOI: 10.4056/Sigs.5048907  1
2014 Pereira S, Gibbs RA, McGuire AL. Open access data sharing in genomic research. Genes. 5: 739-47. PMID 25178093 DOI: 10.3390/Genes5030739  1
2014 Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, ... ... Gibbs RA, et al. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 26: 319-30. PMID 25155756 DOI: 10.1016/J.Ccr.2014.07.014  1
2014 Li Q, Liu X, Gibbs RA, Boerwinkle E, Polychronakos C, Qu HQ. Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. Plos One. 9: e104452. PMID 25136813 DOI: 10.1371/Journal.Pone.0104452  1
2014 Kyrpides NC, Hugenholtz P, Eisen JA, Woyke T, Göker M, Parker CT, Amann R, Beck BJ, Chain PS, Chun J, Colwell RR, Danchin A, Dawyndt P, Dedeurwaerdere T, DeLong EF, ... ... Gibbs R, et al. Genomic encyclopedia of bacteria and archaea: sequencing a myriad of type strains. Plos Biology. 12: e1001920. PMID 25093819 DOI: 10.1371/Journal.Pbio.1001920  1
2014 Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, ... ... Gibbs RA, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/Ng.3050  1
2014 Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, ... Gibbs RA, et al. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. Journal of Clinical Immunology. 34: 871-90. PMID 25073507 DOI: 10.1007/S10875-014-0074-8  1
2014 Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. The Journal of Clinical Endocrinology and Metabolism. 99: E2451-6. PMID 25050900 DOI: 10.1210/Jc.2014-1517  1
2014 Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, ... Gibbs RA, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proceedings of the National Academy of Sciences of the United States of America. 111: 11473-8. PMID 25049390 DOI: 10.1073/Pnas.1324128111  1
2014 Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, ... ... Gibbs RA, et al. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clinical and Experimental Immunology. 178: 459-69. PMID 25046553 DOI: 10.1111/Cei.12421  1
2014 Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, ... Gibbs RA, et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. American Journal of Medical Genetics. Part A. 164: 2328-34. PMID 25045128 DOI: 10.1002/Ajmg.A.36678  1
2014 Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Molecular Genetics and Metabolism Reports. 1: 213-219. PMID 25019053 DOI: 10.1016/J.Ymgmr.2014.04.004  1
2014 Chen ZX, Sturgill D, Qu J, Jiang H, Park S, Boley N, Suzuki AM, Fletcher AR, Plachetzki DC, FitzGerald PC, Artieri CG, Atallah J, Barmina O, Brown JB, Blankenburg KP, ... ... Gibbs RA, et al. Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Research. 24: 1209-23. PMID 24985915 DOI: 10.1101/Gr.159384.113  1
2014 Bis JC, DeStefano A, Liu X, Brody JA, Choi SH, Verhaaren BF, Debette S, Ikram MA, Shahar E, Butler KR, Gottesman RF, Muzny D, Kovar CL, Psaty BM, Hofman A, ... ... Gibbs RA, et al. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. Plos One. 9: e99798. PMID 24959832 DOI: 10.1371/Journal.Pone.0099798  1
2014 Cornes BK, Brody JA, Nikpoor N, Morrison AC, Dang HC, Ahn BS, Wang S, Dauriz M, Barzilay JI, Dupuis J, Florez JC, Coresh J, Gibbs RA, Kao WH, Liu CT, et al. Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 374-82. PMID 24951664 DOI: 10.1161/Circgenetics.113.000169  1
2014 Magnani JW, Brody JA, Prins BP, Arking DE, Lin H, Yin X, Liu CT, Morrison AC, Zhang F, Spector TD, Alonso A, Bis JC, Heckbert SR, Lumley T, Sitlani CM, ... ... Gibbs RA, et al. Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circulation. Cardiovascular Genetics. 7: 365-73. PMID 24951663 DOI: 10.1161/Circgenetics.113.000098  1
2014 Bis JC, White CC, Franceschini N, Brody J, Zhang X, Muzny D, Santibanez J, Gibbs R, Liu X, Lin H, Boerwinkle E, Psaty BM, North KE, Cupples LA, O'Donnell CJ, et al. Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 359-64. PMID 24951662 DOI: 10.1161/Circgenetics.113.000116  1
2014 London SJ, Gao W, Gharib SA, Hancock DB, Wilk JB, House JS, Gibbs RA, Muzny DM, Lumley T, Franceschini N, North KE, Psaty BM, Kovar CL, Coresh J, Zhou Y, et al. ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 350-8. PMID 24951661 DOI: 10.1161/Circgenetics.113.000066  1
2014 Liu CT, Young KL, Brody JA, Olden M, Wojczynski MK, Heard-Costa N, Li G, Morrison AC, Muzny D, Gibbs RA, Reid JG, Shao Y, Zhou Y, Boerwinkle E, Heiss G, et al. Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circulation. Cardiovascular Genetics. 7: 344-9. PMID 24951660 DOI: 10.1161/Circgenetics.13.000067  1
2014 Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, ... ... Gibbs RA, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. American Journal of Human Genetics. 95: 96-107. PMID 24931394 DOI: 10.1016/J.Ajhg.2014.05.007  1
2014 Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Human Molecular Genetics. 23: 5774-80. PMID 24916380 DOI: 10.1093/Hmg/Ddu291  1
2014 Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, ... ... Gibbs RA, et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 94: 915-23. PMID 24906020 DOI: 10.1016/J.Ajhg.2014.05.005  1
2014 Jiang Y, Xie M, Chen W, Talbot R, Maddox JF, Faraut T, Wu C, Muzny DM, Li Y, Zhang W, Stanton JA, Brauning R, Barris WC, Hourlier T, Aken BL, ... ... Gibbs RA, et al. The sheep genome illuminates biology of the rumen and lipid metabolism. Science (New York, N.Y.). 344: 1168-73. PMID 24904168 DOI: 10.1126/Science.1252806  1
2014 Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. Bmc Medical Genetics. 15: 64. PMID 24898207 DOI: 10.1186/1471-2350-15-64  1
2014 Wang L, Yamaguchi S, Burstein MD, Terashima K, Chang K, Ng HK, Nakamura H, He Z, Doddapaneni H, Lewis L, Wang M, Suzuki T, Nishikawa R, Natsume A, Terasaka S, ... ... Gibbs RA, et al. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 511: 241-5. PMID 24896186 DOI: 10.1038/Nature13296  1
2014 Pickering CR, Zhang J, Neskey DM, Zhao M, Jasser SA, Wang J, Ward A, Tsai CJ, Ortega Alves MV, Zhou JH, Drummond J, El-Naggar AK, Gibbs R, Weinstein JN, Wheeler DA, et al. Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 20: 3842-8. PMID 24874835 DOI: 10.1158/1078-0432.Ccr-14-0565  1
2014 Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, ... ... Gibbs RA, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. American Journal of Human Genetics. 94: 784-9. PMID 24791903 DOI: 10.1016/J.Ajhg.2014.04.006  1
2014 Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, ... ... Gibbs RA, et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 157: 636-50. PMID 24766809 DOI: 10.1016/J.Cell.2014.02.058  1
2014 Bellott DW, Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Cho TJ, Koutseva N, Zaghlul S, Graves T, Rock S, Kremitzki C, Fulton RS, Dugan S, Ding Y, Morton D, ... ... Gibbs RA, et al. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 508: 494-9. PMID 24759411 DOI: 10.1038/Nature13206  1
2014 Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, et al. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. American Journal of Human Genetics. 94: 745-54. PMID 24746959 DOI: 10.1016/J.Ajhg.2014.03.017  1
2014 Huang W, Massouras A, Inoue Y, Peiffer J, Ràmia M, Tarone AM, Turlapati L, Zichner T, Zhu D, Lyman RF, Magwire MM, Blankenburg K, Carbone MA, Chang K, Ellis LL, ... ... Gibbs RA, et al. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Research. 24: 1193-208. PMID 24714809 DOI: 10.1101/Gr.171546.113  1
2014 Rogers J, Gibbs RA. Comparative primate genomics: emerging patterns of genome content and dynamics. Nature Reviews. Genetics. 15: 347-59. PMID 24709753 DOI: 10.1038/Nrg3707  1
2014 Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, ... ... Gibbs RA, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258. PMID 24676022 DOI: 10.1371/Journal.Pgen.1004258  1
2014 Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... ... Gibbs RA, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/Gim.2014.22  1
2014 Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. Journal of Pediatric Gastroenterology and Nutrition. 59: 17-21. PMID 24614124 DOI: 10.1097/Mpg.0000000000000363  1
2014 Moura AE, Janse van Rensburg C, Pilot M, Tehrani A, Best PB, Thornton M, Plön S, de Bruyn PJ, Worley KC, Gibbs RA, Dahlheim ME, Hoelzel AR. Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum. Molecular Biology and Evolution. 31: 1121-31. PMID 24497033 DOI: 10.1093/Molbev/Msu058  1
2014 Elsik CG, Worley KC, Bennett AK, Beye M, Camara F, Childers CP, de Graaf DC, Debyser G, Deng J, Devreese B, Elhaik E, Evans JD, Foster LJ, Graur D, Guigo R, ... ... Gibbs RA, et al. Finding the missing honey bee genes: lessons learned from a genome upgrade. Bmc Genomics. 15: 86. PMID 24479613 DOI: 10.1186/1471-2164-15-86  1
2014 Reid JG, Carroll A, Veeraraghavan N, Dahdouli M, Sundquist A, English A, Bainbridge M, White S, Salerno W, Buhay C, Yu F, Muzny D, Daly R, Duyk G, Gibbs RA, et al. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. Bmc Bioinformatics. 15: 30. PMID 24475911 DOI: 10.1186/1471-2105-15-30  1
2014 Wang L, Swierczek SI, Lanikova L, Kim SJ, Hickman K, Walker K, Wang K, Drummond J, Doddapaneni H, Reid JG, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT. The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 28: 938-41. PMID 24463469 DOI: 10.1038/Leu.2014.20  1
2014 Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Gibbs RA, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/J.Ajhg.2014.01.002  1
2014 Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. European Journal of Human Genetics : Ejhg. 22: 1145-8. PMID 24424126 DOI: 10.1038/Ejhg.2013.291  1
2014 Wang L, Swierczek SI, Drummond J, Hickman K, Kim SJ, Walker K, Doddapaneni H, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT. Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. Leukemia. 28: 935-8. PMID 24413320 DOI: 10.1038/Leu.2014.7  1
2014 Sloan DB, Nakabachi A, Richards S, Qu J, Murali SC, Gibbs RA, Moran NA. Parallel histories of horizontal gene transfer facilitated extreme reduction of endosymbiont genomes in sap-feeding insects. Molecular Biology and Evolution. 31: 857-71. PMID 24398322 DOI: 10.1093/Molbev/Msu004  1
2014 Gazave E, Ma L, Chang D, Coventry A, Gao F, Muzny D, Boerwinkle E, Gibbs RA, Sing CF, Clark AG, Keinan A. Neutral genomic regions refine models of recent rapid human population growth. Proceedings of the National Academy of Sciences of the United States of America. 111: 757-62. PMID 24379384 DOI: 10.1073/Pnas.1310398110  1
2014 Parikh N, Hilsenbeck S, Creighton CJ, Dayaram T, Shuck R, Shinbrot E, Xi L, Gibbs RA, Wheeler DA, Donehower LA. Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. The Journal of Pathology. 232: 522-33. PMID 24374933 DOI: 10.1002/Path.4321  1
2014 Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, ... ... Gibbs RA, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. The Lancet. Neurology. 13: 44-58. PMID 24291220 DOI: 10.1016/S1474-4422(13)70265-5  1
2014 Lin H, Sinner MF, Brody JA, Arking DE, Lunetta KL, Rienstra M, Lubitz SA, Magnani JW, Sotoodehnia N, McKnight B, McManus DD, Boerwinkle E, Psaty BM, Rotter JI, Bis JC, ... Gibbs RA, et al. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 11: 452-7. PMID 24239840 DOI: 10.1016/J.Hrthm.2013.11.012  1
2014 Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatric Diabetes. 15: 252-6. PMID 24138066 DOI: 10.1111/Pedi.12086  1
2014 Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, et al. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 386-94. PMID 24136616 DOI: 10.1038/Gim.2013.155  1
2014 Parsons DW, Roy A, Monzon FA, Yang Y, Lopez-Terrada DH, Chintagumpala MM, Berg SL, Nuchtern JG, Hilsenbeck SG, Wang T, Kerstein RA, Scollon S, Bergstrom K, Ramamurthy U, Reid JG, ... ... Gibbs RA, et al. What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors. Journal of Clinical Oncology. 32: 10012-10012. DOI: 10.1200/Jco.2014.32.15_Suppl.10012  1
2014 Wang L, Yamaguchi S, Terashima K, Burstein MD, Nakamura H, Susuki T, Nishikawa R, Natsume A, Terasaka S, Ng HK, Adesina A, Gibbs R, Wheeler D, Lau C. Abstract PR04: Novel somatic and germline mutations in intracranial germ cell tumors Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-Pr04  1
2014 Parsons DW, Roy A, Monzon FA, López-Terrada DH, Chintagumpala MM, Berg SL, Hilsenbeck SG, Wang T, Kerstein RA, Scollon S, Bergstrom K, Street RL, McCullough LB, McGuire AL, Ramamurthy U, ... ... Gibbs RA, et al. Abstract IA16: Evaluating the implementation and utility of clinical tumor exome sequencing in the pediatric oncology clinic: Early results of the BASIC3 study Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-Ia16  1
2014 Saliba J, Zabriskie R, Powell B, Hicks S, Kimmel M, Cheung H, Ritter D, Muzny DM, Reid JG, Wheeler DA, Gibbs RA, Plon SE. Abstract A8: Functional analysis of genomic variants identified through whole exome sequencing of pediatric lymphocytic leukemia kindreds Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-A8  1
2014 Plon SE, Scollon S, Bergstrom K, Kerstein RA, Chintagumpala M, Berg SL, Hilsenbeck SG, Wang T, Rednam S, Wheeler D, McCullough L, Street R, McGuire AL, Jeffrey RG, Muzny DM, ... ... Gibbs RA, et al. Abstract 11: Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study Cancer Research. 74: 11-11. DOI: 10.1158/1538-7445.Cansusc14-11  1
2014 Wheeler DA, Wang L, Swierczek S, Hickman K, Drummond JA, Muzny D, Gibbs RA, Prchal J. Abstract LB-311: Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes Cancer Research. 74. DOI: 10.1158/1538-7445.Am2014-Lb-311  1
2014 Parsons DW, Roy A, Monzon FA, Yang Y, López-Terrada DH, Chintagumpala MM, Berg SL, Hilsenbeck SG, Wang T, Kerstein RA, Scollon S, Bergstrom K, Street RL, McCullough LB, McGuire AL, ... ... Gibbs RA, et al. Abstract 5169: Diagnostic yield of clinical tumor and germline exome sequencing for newly diagnosed children with solid tumors Cancer Research. 74: 5169-5169. DOI: 10.1158/1538-7445.Am2014-5169  1
2014 Hampton OA, Gibbs RA, Wheeler DA. Abstract 2370: Comparative evaluation of somatic mutations calls on single nucleotide variants and structural variants using breast cancer cell lines Cancer Research. 74: 2370-2370. DOI: 10.1158/1538-7445.Am2014-2370  1
2014 Covington KR, Donehower LA, Creighton C, Slagle BL, Goss JA, Cotton RT, Gingras M, Shinbrot E, Guiteau JJ, Nguyen TN, Harring TR, Muzny DM, Walker K, Doddapaneni H, Gibbs RA, et al. Abstract 2211: Viral subtypes in hepatocellular carcinoma are associated with different mechanisms of WNT/CTNNB1 alteration Cancer Research. 74: 2211-2211. DOI: 10.1158/1538-7445.Am2014-2211  1
2014 Larsen JE, Davis CF, Huffman K, Girard L, Wheeler DA, Gibbs RA, Minna JD. Abstract 1525: Exome sequencing to identify permissive mutations representing acquired vulnerabilities in lung cancer Cancer Research. 74: 1525-1525. DOI: 10.1158/1538-7445.Am2014-1525  1
2014 Kannan V, Misra BK, Kapadia A, Bajpai R, Deshpande S, Almel S, Sankhe M, Desai K, Shaikh M, Anand V, Kannan A, Teo W, Ross J, Bollo R, Seow W, ... ... Gibbs R, et al. Germ Cell Tumours Neuro-Oncology. 16. DOI: 10.1093/Neuonc/Nou070  1
2014 Baud A, Guryev V, Hummel O, Johannesson M, Flint J, Hermsen R, Stridh P, Graham D, McBride MW, Foroud T, Calderari S, Diez M, Ockinger J, Beyeen AD, Gillett A, ... ... Gibbs RA, et al. Genomes and phenomes of a population of outbred rats and its progenitors Scientific Data. 1. DOI: 10.1038/sdata.2014.11  1
2014 Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin L, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge M, Lawson K, Pehlivan D, Okamoto Y, Withers M, Mancias P, ... ... Gibbs R, et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Cell Reports. DOI: 10.1016/j.celrep.2015.07.023  1
2014 Campeau PM, Hennekam RC, Aftimos S, Banka S, Begleiter ML, Bilo L, Blair E, Burrage LC, Liu DS, De Bie I, Félix TM, Giltay JC, Gibbs RA, Giuliano F, Hadzsiev K, et al. DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166: 327-332. DOI: 10.1002/Ajmg.C.31412  1
2013 Hughes JF, Skaletsky H, Bellott DW, Chowdhary BP, Warren WC, Worley KC, Wilson RK, Gibbs RA, Page DC. No bull: upholding community standards in public sharing of biological datasets. Proceedings of the National Academy of Sciences of the United States of America. 110: E4277. PMID 24173037 DOI: 10.1073/Pnas.1315122110  1
2013 Fang Y, Yao Q, Chen Z, Xiang J, William FE, Gibbs RA, Chen C. Genetic and molecular alterations in pancreatic cancer: implications for personalized medicine. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research. 19: 916-26. PMID 24172537 DOI: 10.12659/Msm.889636  1
2013 Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, ... Gibbs RA, et al. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. Jama Neurology. 70: 1491-8. PMID 24126608 DOI: 10.1001/Jamaneurol.2013.4598  1
2013 Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR, Zheng S, Chakravarty D, Sanborn JZ, Berman SH, Beroukhim R, Bernard B, Wu CJ, Genovese G, Shmulevich I, ... ... Gibbs R, et al. The somatic genomic landscape of glioblastoma. Cell. 155: 462-77. PMID 24120142 DOI: 10.1016/J.Cell.2013.09.034  1
2013 Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, ... ... Gibbs R, et al. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science (New York, N.Y.). 342: 1235587. PMID 24092746 DOI: 10.1126/Science.1235587  1
2013 Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, ... ... Gibbs RA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine. 369: 1502-11. PMID 24088041 DOI: 10.1056/Nejmoa1306555  1
2013 Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Molecular Psychiatry. 18: 1315-23. PMID 23979605 DOI: 10.1038/mp.2013.102  1
2013 He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/Journal.Pgen.1003671  1
2013 Murphy SJ, Hart SN, Lima JF, Kipp BR, Klebig M, Winters JL, Szabo C, Zhang L, Eckloff BW, Petersen GM, Scherer SE, Gibbs RA, McWilliams RR, Vasmatzis G, Couch FJ. Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor. Gastroenterology. 145: 1098-1109.e1. PMID 23912084 DOI: 10.1053/J.Gastro.2013.07.049  1
2013 Bradnam KR, Fass JN, Alexandrov A, Baranay P, Bechner M, Birol I, Boisvert S, Chapman JA, Chapuis G, Chikhi R, Chitsaz H, Chou WC, Corbeil J, Del Fabbro C, Docking TR, ... ... Gibbs RA, et al. Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience. 2: 10. PMID 23870653 DOI: 10.1186/2047-217X-2-10  1
2013 Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Medicine. 5: 57. PMID 23806086 DOI: 10.1186/Gm461  1
2013 Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA. Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Human Molecular Genetics. 22: 4329-38. PMID 23773993 DOI: 10.1093/Hmg/Ddt282  1
2013 Morrison AC, Voorman A, Johnson AD, Liu X, Yu J, Li A, Muzny D, Yu F, Rice K, Zhu C, Bis J, Heiss G, O'Donnell CJ, Psaty BM, Cupples LA, ... Gibbs R, et al. Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nature Genetics. 45: 899-901. PMID 23770607 DOI: 10.1038/Ng.2671  1
2013 Schafer CM, Campbell NG, Cai G, Yu F, Makarov V, Yoon S, Daly MJ, Gibbs RA, Schellenberg GD, Devlin B, Sutcliffe JS, Buxbaum JD, Roeder K. Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics. 102: 270-7. PMID 23743231 DOI: 10.1016/J.Ygeno.2013.05.005  1
2013 Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, ... ... Gibbs RA, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. American Journal of Human Genetics. 92: 996-1000. PMID 23731537 DOI: 10.1016/J.Ajhg.2013.04.026  1
2013 Baud A, Hermsen R, Guryev V, Stridh P, Graham D, McBride MW, Foroud T, Calderari S, Diez M, Ockinger J, Beyeen AD, Gillett A, Abdelmagid N, Guerreiro-Cacais AO, ... ... Gibbs RA, et al. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nature Genetics. 45: 767-75. PMID 23708188 DOI: 10.1038/Ng.2644  1
2013 Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2333-7. PMID 23674381 DOI: 10.1002/Jbmr.1983  1
2013 Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, ... ... Gibbs RA, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. The New England Journal of Medicine. 368: 1809-16. PMID 23656646 DOI: 10.1056/Nejmoa1215458  1
2013 Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, Valsecchi C, Scherer SE, Hale W, Muzny DM, Randi G, Rosendaal FR, Gibbs RA, et al. Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis Journal of Thrombosis and Haemostasis. 11: 1228-1239. PMID 23648131 DOI: 10.1111/Jth.12291  1
2013 Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics. 92: 781-91. PMID 23623387 DOI: 10.1016/J.Ajhg.2013.03.020  1
2013 Pickering CR, Zhang J, Yoo SY, Bengtsson L, Moorthy S, Neskey DM, Zhao M, Ortega Alves MV, Chang K, Drummond J, Cortez E, Xie TX, Zhang D, Chung W, Issa JP, ... ... Gibbs RA, et al. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discovery. 3: 770-81. PMID 23619168 DOI: 10.1158/2159-8290.Cd-12-0537  1
2013 Chen Y, Hong J, Cui W, Zaneveld J, Wang W, Gibbs R, Xiao Y, Chen R. CGAP-Align: A High Performance DNA Short Read Alignment Tool Plos One. 8. PMID 23593381 DOI: 10.1371/Journal.Pone.0061033  1
2013 Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, ... ... Gibbs RA, et al. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. Plos Genetics. 9: e1003443. PMID 23593035 DOI: 10.1371/Journal.Pgen.1003443  1
2013 Ling PD, Reid JG, Qin X, Muzny DM, Gibbs R, Petrosino J, Peng R, Zong JC, Heaggans SY, Hayward GS. Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A. Genome Announcements. 1: e0010613. PMID 23580705 DOI: 10.1128/Genomea.00106-13  1
2013 Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clinical Dysmorphology. 22: 76-80. PMID 23448908 DOI: 10.1097/Mcd.0B013E32835Fff39  1
2013 Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, et al. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 24: 2253-9. PMID 23443412 DOI: 10.1007/S00198-013-2290-0  1
2013 Gibbs RA, Rymer C, Givens DI. Fatty acid composition of cooked chicken meat and chicken meat products as influenced by price range at retail Food Chemistry. 138: 1749-1756. PMID 23411307 DOI: 10.1016/j.foodchem.2012.11.002  1
2013 Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 1523-30. PMID 23408678 DOI: 10.1002/Jbmr.1891  1
2013 Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine. 5: 11. PMID 23383720 DOI: 10.1186/Gm415  1
2013 Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, ... ... Gibbs RA, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029  1
2013 Wang Y, Lu J, Yu J, Gibbs RA, Yu F. An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data Genome Research. 23: 833-842. PMID 23296920 DOI: 10.1101/Gr.146084.112  1
2013 Powell BC, Jiang L, Muzny DM, Treviño LR, Dreyer ZE, Strong LC, Wheeler DA, Gibbs RA, Plon SE. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatric Blood & Cancer. 60: E1-3. PMID 23255406 DOI: 10.1002/Pbc.24417  1
2013 Niu T, Smith DL, Yang Z, Gao S, Yin T, Jiang ZH, You M, Gibbs RA, Petrosino JF, Hu M. Bioactivity and bioavailability of ginsenosides are dependent on the glycosidase activities of the A/J mouse intestinal microbiome defined by pyrosequencing Pharmaceutical Research. 30: 836-846. PMID 23254888 DOI: 10.1007/S11095-012-0925-Z  1
2013 Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF, Yu FL. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. Journal of Thrombosis and Haemostasis : Jth. 11: 261-9. PMID 23216583 DOI: 10.1111/Jth.12093  1
2013 Rogers J, Raveendran M, Fawcett GL, Fox AS, Shelton SE, Oler JA, Cheverud J, Muzny DM, Gibbs RA, Davidson RJ, Kalin NH. CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Molecular Psychiatry. 18: 700-7. PMID 23147386 DOI: 10.1038/Mp.2012.152  1
2013 Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu YQ, Wang M, McGuire AL, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clinical Genetics. 83: 457-61. PMID 22901280 DOI: 10.1111/J.1399-0004.2012.01951.X  1
2013 Donehower LA, Creighton CJ, Schultz N, Shinbrot E, Chang K, Gunaratne PH, Muzny D, Sander C, Hamilton SR, Gibbs RA, Wheeler D. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. The Journal of Pathology. 229: 99-110. PMID 22899370 DOI: 10.1002/Path.4087  1
2013 Gibbs RA, Nanyonjo R, Pingault NM, Combs BG, Mazzucchelli T, Armstrong P, Tarling G, Dowse GK. An outbreak of Cyclospora infection on a cruise ship Epidemiology and Infection. 141: 508-516. PMID 22687637 DOI: 10.1017/S0950268812001197  1
2013 Crowley JJ, Hilliard CE, Kim Y, Morgan MB, Lewis LR, Muzny DM, Hawes AC, Sabo A, Wheeler DA, Lieberman JA, Sullivan PF, Gibbs RA. Deep resequencing and association analysis of schizophrenia candidate genes. Molecular Psychiatry. 18: 138-40. PMID 22472875 DOI: 10.1038/Mp.2012.28  1
2013 Laine C, Joeng KS, Campeau P, Kiviranta R, Tarkkonen K, Grover M, Lu J, Pekkinen M, Wessman M, Heino T, Nieminen-Pihala V, Laine T, Kroger H, Cole W, Lehesjoki A, ... ... Gibbs R, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass Bone Abstracts. DOI: 10.1530/Boneabs.2.Lb2  1
2013 Parsons DW, Chintagumpala MM, Berg SL, López-Terrada DH, Roy A, Kerstein RA, Scollon S, Hilsenbeck SG, Ramamurthy U, Eng CM, Yang Y, Gibbs RA, Wheeler DA, Street RL, McCullough LB, et al. Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study. Journal of Clinical Oncology. 31: 10023-10023. DOI: 10.1200/Jco.2013.31.15_Suppl.10023  1
2013 Wang L, Yamaguchi S, Terashima K, Burstein MD, Sun JM, Suzuki T, Nishikawa R, Nakamura H, Natsume A, Terasaka S, Ng H, Dauser RC, Whitehead WE, Adekunle AM, Muzny DM, ... Gibbs RA, et al. Abstract LB-355: Whole-exome sequencing of intracranial germ cell tumors reveals frequent mutations in KIT and RAS pathways and histone demethylases. Cancer Research. 73. DOI: 10.1158/1538-7445.Am2013-Lb-355  1
2013 Peddibhotla S, Powell B, Patel MP, Rao PH, Wheeler DA, Gibbs RA, Plon SE. Abstract 3814: Exome sequencing for identification of causative genes for mosaic variegated aneuploidy. Cancer Research. 73: 3814-3814. DOI: 10.1158/1538-7445.Am2013-3814  1
2013 Shinbrot E, Weinhold N, Schultz N, Donehower LA, Drummond J, Chang K, Gibbs R, Sander C, Wheeler DA. Abstract 1114: Polymerase epsilon (POLE) mutations and mutator phenotypes in colorectal and endometrial tumors. Cancer Research. 73: 1114-1114. DOI: 10.1158/1538-7445.Am2013-1114  1
2013 Creighton CJ, Morgan M, Gunaratne PH, Wheeler DA, Gibbs RA, Robertson G, Chu A, Beroukhim R, Cibulskis K, Signoretti S, Vandin F, Wu HT, Raphael BJ, Verhaak RGW, Tamboli P, et al. Comprehensivemolecular characterization of clear cell renal cell carcinoma Nature. 499: 43-49. DOI: 10.1038/Nature12222  1
2012 Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, Butte NF. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Plos One. 7: e51954. PMID 23251661 DOI: 10.1371/Journal.Pone.0051954  1
2012 English AC, Richards S, Han Y, Wang M, Vee V, Qu J, Qin X, Muzny DM, Reid JG, Worley KC, Gibbs RA. Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. Plos One. 7: e47768. PMID 23185243 DOI: 10.1371/Journal.Pone.0047768  1
2012 Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 491: 56-65. PMID 23128226 DOI: 10.1038/Nature11632  1
2012 Deng Z, Huang W, Bakkalbasi E, Brown NG, Adamski CJ, Rice K, Muzny D, Gibbs RA, Palzkill T. Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution Journal of Molecular Biology. 424: 150-167. PMID 23017428 DOI: 10.1016/J.Jmb.2012.09.014  1
2012 Huang W, Richards S, Carbone MA, Zhu D, Anholt RR, Ayroles JF, Duncan L, Jordan KW, Lawrence F, Magwire MM, Warner CB, Blankenburg K, Han Y, Javaid M, Jayaseelan J, ... ... Gibbs RA, et al. Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proceedings of the National Academy of Sciences of the United States of America. 109: 15553-9. PMID 22949659 DOI: 10.1073/Pnas.1213423109  1
2012 McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, ... ... Gibbs RA, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature Medicine. 18: 1423-8. PMID 22941275 DOI: 10.1038/Nm.2860  1
2012 Liu SH, Rao DD, Nemunaitis J, Senzer N, Zhou G, Dawson D, Gingras MC, Wang Z, Gibbs R, Norman M, Templeton NS, Demayo FJ, O'Malley B, Sanchez R, Fisher WE, et al. PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform. Plos One. 7: e40452. PMID 22905092 DOI: 10.1371/Journal.Pone.0040452  1
2012 Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Human Molecular Genetics. 21: 4904-9. PMID 22875837 DOI: 10.1093/Hmg/Dds326  1
2012 Placzek AT, Hougland JL, Gibbs RA. Synthesis of frame-shifted farnesyl diphosphate analogs. Organic Letters. 14: 4038-41. PMID 22857735 DOI: 10.1021/Ol300683R  1
2012 Muzny DM, Bainbridge MN, Chang K, Dinh HH, Drummond JA, Fowler G, Kovar CL, Lewis LR, Morgan MB, Newsham IF, Reid JG, Santibanez J, Shinbrot E, Trevino LR, Wu YQ, ... ... Gibbs RA, et al. Comprehensive molecular characterization of human colon and rectal cancer Nature. 487: 330-337. PMID 22810696 DOI: 10.1038/Nature11252  1
2012 Qin X, Galloway-Peña JR, Sillanpaa J, Roh JH, Nallapareddy SR, Chowdhury S, Bourgogne A, Choudhury T, Muzny DM, Buhay CJ, Ding Y, Dugan-Rocha S, Liu W, Kovar C, Sodergren E, ... ... Gibbs RA, et al. Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes. Bmc Microbiology. 12: 135. PMID 22769602 DOI: 10.1186/1471-2180-12-135  1
2012 Bergman JA, Hahne K, Song J, Hrycyna CA, Gibbs RA. S-Farnesyl-Thiopropionic Acid (FTPA) Triazoles as Potent Inhibitors of Isoprenylcysteine Carboxyl Methyltransferase. Acs Medicinal Chemistry Letters. 3: 15-19. PMID 22754607 DOI: 10.1021/Ml200106D  1
2012 Lee E, Iskow R, Yang L, Gokcumen O, Haseley P, Luquette LJ, Lohr JG, Harris CC, Ding L, Wilson RK, Wheeler DA, Gibbs RA, Kucherlapati R, Lee C, Kharchenko PV, et al. Landscape of somatic retrotransposition in human cancers. Science (New York, N.Y.). 337: 967-71. PMID 22745252 DOI: 10.1126/Science.1222077  1
2012 . Butterfly genome reveals promiscuous exchange of mimicry adaptations among species. Nature. 487: 94-8. PMID 22722851 DOI: 10.1038/Nature11041  1
2012 Ward DV, Gevers D, Giannoukos G, Earl AM, Methé BA, Sodergren E, Feldgarden M, Ciulla DM, Tabbaa D, Arze C, Appelbaum E, Aird L, Anderson S, Ayvaz T, Belter E, ... ... Gibbs RA, et al. Evaluation of 16s rDNA-based community profiling for human microbiome research Plos One. 7. PMID 22720093 DOI: 10.1371/Journal.Pone.0039315  1
2012 Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation. 33: 1520-5. PMID 22715153 DOI: 10.1002/Humu.22141  1
2012 Tu Q, Cameron RA, Worley KC, Gibbs RA, Davidson EH. Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis. Genome Research. 22: 2079-87. PMID 22709795 DOI: 10.1101/Gr.139170.112  1
2012 Hahne K, Vervacke JS, Shrestha L, Donelson JL, Gibbs RA, Distefano MD, Hrycyna CA. Evaluation of substrate and inhibitor binding to yeast and human isoprenylcysteine carboxyl methyltransferases (Icmts) using biotinylated benzophenone-containing photoaffinity probes. Biochemical and Biophysical Research Communications. 423: 98-103. PMID 22634004 DOI: 10.1016/J.Bbrc.2012.05.089  1
2012 Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/Ajmg.A.35470  1
2012 Ober U, Ayroles JF, Stone EA, Richards S, Zhu D, Gibbs RA, Stricker C, Gianola D, Schlather M, Mackay TF, Simianer H. Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. Plos Genetics. 8: e1002685. PMID 22570636 DOI: 10.1371/Journal.Pgen.1002685  1
2012 Lotta LA, Wu HM, Mackie IJ, Noris M, Veyradier A, Scully MA, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Garagiola I, et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 120: 440-8. PMID 22529288 DOI: 10.1182/Blood-2012-01-403113  1
2012 Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, ... ... Gibbs RA, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 485: 242-5. PMID 22495311 DOI: 10.1038/Nature11011  1
2012 Creighton CJ, Hernandez-Herrera A, Jacobsen A, Levine DA, Mankoo P, Schultz N, Du Y, Zhang Y, Larsson E, Sheridan R, Xiao W, Spellman PT, Getz G, Wheeler DA, Perou CM, ... Gibbs RA, et al. Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma. Plos One. 7: e34546. PMID 22479643 DOI: 10.1371/Journal.Pone.0034546  1
2012 Fondon JW, Martin A, Richards S, Gibbs RA, Mittelman D. Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing Plos One. 7. PMID 22427938 DOI: 10.1371/Journal.Pone.0033036  1
2012 Gibbs RA, Rogers J. Genomics: Gorilla gorilla gorilla Nature. 483: 164-165. PMID 22398552 DOI: 10.1038/483164A  1
2012 Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, Fulton RS, Dugan S, Ding Y, Buhay CJ, Kremitzki C, Wang Q, Shen H, Holder M, Villasana D, Nazareth LV, ... ... Gibbs RA, et al. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 483: 82-6. PMID 22367542 DOI: 10.1038/Nature10843  1
2012 Lotta LA, Wang M, Yu J, Martinelli I, Yu F, Passamonti SM, Consonni D, Pappalardo E, Menegatti M, Scherer SE, Lewis LL, Akbar H, Wu Y, Bainbridge MN, Muzny DM, ... ... Gibbs RA, et al. Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. Bmc Medical Genomics. 5: 7. PMID 22353194 DOI: 10.1186/1755-8794-5-7  1
2012 MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, ... ... Gibbs RA, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science (New York, N.Y.). 335: 823-8. PMID 22344438 DOI: 10.1126/Science.1215040  1
2012 Mackay TF, Richards S, Stone EA, Barbadilla A, Ayroles JF, Zhu D, Casillas S, Han Y, Magwire MM, Cridland JM, Richardson MF, Anholt RR, Barrón M, Bess C, Blankenburg KP, ... ... Gibbs RA, et al. The Drosophila melanogaster Genetic Reference Panel. Nature. 482: 173-8. PMID 22318601 DOI: 10.1038/Nature10811  1
2012 Cejková D, Zobaníková M, Chen L, Pospíšilová P, Strouhal M, Qin X, Mikalová L, Norris SJ, Muzny DM, Gibbs RA, Fulton LL, Sodergren E, Weinstock GM, Smajs D. Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. Plos Neglected Tropical Diseases. 6: e1471. PMID 22292095 DOI: 10.1371/Journal.Pntd.0001471  1
2012 Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, ... ... Gibbs RA, et al. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 282-9. PMID 22265014 DOI: 10.1016/J.Ajhg.2011.11.023  1
2012 Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease Annual Review of Medicine. 63: 35-61. PMID 22248320 DOI: 10.1146/Annurev-Med-051010-162644  1
2012 Challis D, Yu J, Evani US, Jackson AR, Paithankar S, Coarfa C, Milosavljevic A, Gibbs RA, Yu F. An integrative variant analysis suite for whole exome next-generation sequencing data Bmc Bioinformatics. 13. PMID 22239737 DOI: 10.1186/1471-2105-13-8  1
2012 Wang Y, Zhang Y, Yang J, Ni X, Liu S, Li Z, Hodges SE, Fisher WE, Brunicardi FC, Gibbs RA, Gingras MC, Li M. Genomic sequencing of key genes in mouse pancreatic cancer cells. Current Molecular Medicine. 12: 331-41. PMID 22208613 DOI: 10.2174/156652412799218868  1
2012 Stark MS, Woods SL, Gartside MG, Bonazzi VF, Dutton-Regester K, Aoude LG, Chow D, Sereduk C, Niemi NM, Tang N, Ellis JJ, Reid J, Zismann V, Tyagi S, Muzny D, ... ... Gibbs R, et al. Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing. Nature Genetics. 44: 165-9. PMID 22197930 DOI: 10.1038/Ng.1041  1
2012 Majmudar JD, Hodges-Loaiza HB, Hahne K, Donelson JL, Song J, Shrestha L, Harrison ML, Hrycyna CA, Gibbs RA. Amide-modified prenylcysteine based Icmt inhibitors: Structure-activity relationships, kinetic analysis and cellular characterization. Bioorganic & Medicinal Chemistry. 20: 283-95. PMID 22142613 DOI: 10.1016/J.Bmc.2011.10.087  1
2012 Sexton DP, Dahdouli M, Bainbridge M, Challis D, Yu F, Boerwinkle E, Reid JG, Gibbs R. Mercury: next generation sequencing data analysis and annotation pipeline F1000research. 3. DOI: 10.7490/F1000Research.1092102.1  1
2012 Lu JT, Wang Y, Gibbs RA, Yu F. Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms Genome Biology. 13. DOI: 10.1186/Gb-2012-13-2-R15  1
2012 Biankin AV, McPherson JD, Gibbs RA. Abstract IA3: Genomic analysis reveals roles for chromatin modification and axon guidance in pancreatic cancer. Cancer Research. 72. DOI: 10.1158/1538-7445.Panca2012-Ia3  1
2012 Gingras M, Wheeler DA, Muzny DM, Hodges SE, Fisher WE, Gibbs RA. Abstract A14: Can mutation profile be of help to define the cellular origin of ampullary adenocarcinoma? Cancer Research. 72. DOI: 10.1158/1538-7445.Panca2012-A14  1
2012 Biankin AV, McPherson JD, Gibbs RA, Grimmond SM. Abstract LB-404: Genomic analysis reveals roles for chromatin modification and axon guidance in pancreatic cancer Molecular and Cellular Biology. DOI: 10.1158/1538-7445.Am2012-Lb-404  1
2012 Saliba J, Trevino LR, Meng Q, Zabriskie R, Powell B, Hicks S, Kimmel M, Cheung H, Muzny DM, Reid JG, Wheeler D, Gibbs RA, Plon SE. Abstract 5113: Functional analysis of genomic variants identified through whole exome sequencing for susceptibility to lymphocytic leukemia Cancer Research. 72: 5113-5113. DOI: 10.1158/1538-7445.Am2012-5113  1
2012 Czerniak BA, Majewski T, Bondaruk J, Zhang S, Lee S, Baggerly K, Dinney C, Grossman HB, Wu X, Issa J, Zhang W, Gibbs R, Scherer SE. Abstract 5066: Genome sequence and epigenome map of bladder cancer development from occult field effects Cancer Research. 72: 5066-5066. DOI: 10.1158/1538-7445.Am2012-5066  1
2012 Majmudar JD, Morrison-Logue A, Song J, Hrycyna CA, Gibbs RA. Identification of a novel nanomolar inhibitor of hIcmt via a carboxylate replacement approach Medchemcomm. 3: 1125-1137. DOI: 10.1039/C2Md20108A  1
2012 Richards S, Muzny DM, Civitello AB, Lu F, Gibbs RA. Sequence Map Gaps and Directed Reverse Sequencing for the Completion of Large Sequencing Projects Automated Dna Sequencing and Analysis. 191-198. DOI: 10.1016/B978-0-08-092639-1.50032-0  1
2012 Muzny DM, Richards S, Shen Y, Gibbs RA. PCR Based Strategies for Gap Closure in Large-scale Sequencing Projects Automated Dna Sequencing and Analysis. 182-190. DOI: 10.1016/B978-0-08-092639-1.50031-9  1
2012 Worley KC, Gibbs RA. Sequencing the Bovine Genome Bovine Genomics. 109-122. DOI: 10.1002/9781118301739.ch9  1
2012 Dandara C, Adebamowo C, de Vries J, Dove ES, Fisher E, Gibbs RA, Hotez PJ, Kickbusch I, Knoppers BM, Masellis M, Oestergaard MZ, Pang T, Rotimi CN. An idea whose time has come? An African foresight observatory on genomics medicine and data-intensive global science Current Pharmacogenomics and Personalized Medicine. 10: 7-15.  1
2011 Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Molecular Vision. 17: 3529-40. PMID 22219648  1
2011 Zhou G, Gingras MC, Liu SH, Sanchez R, Edwards D, Dawson D, Christensen K, Paganelli G, Gibbs R, Fisher W, Brunicardi FC. SSTR5 P335L monoclonal antibody differentiates pancreatic neuroendocrine neuroplasms with different SSTR5 genotypes. Surgery. 150: 1136-42. PMID 22136833 DOI: 10.1016/J.Surg.2011.09.044  1
2011 Page D, Cheung V, Haussler D, Gibbs R. Human genome: What's been most surprising? Cell. 147: 9-10. PMID 22128372 DOI: 10.1016/J.Cell.2011.09.006  0.01
2011 Majmudar JD, Gibbs RA. Pericyclic prenylation: Peptide modification through a claisen rearrangement Chembiochem. 12: 2723-2726. PMID 22114066 DOI: 10.1002/Cbic.201100612  1
2011 Xi R, Hadjipanayis AG, Luquette LJ, Kim TM, Lee E, Zhang J, Johnson MD, Muzny DM, Wheeler DA, Gibbs RA, Kucherlapati R, Park PJ. Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proceedings of the National Academy of Sciences of the United States of America. 108: E1128-36. PMID 22065754 DOI: 10.1073/Pnas.1110574108  1
2011 Lindblad-Toh K, Garber M, Zuk O, Lin MF, Parker BJ, Washietl S, Kheradpour P, Ernst J, Jordan G, Mauceli E, Ward LD, Lowe CB, Holloway AK, Clamp M, Gnerre S, ... ... Gibbs RA, et al. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 478: 476-82. PMID 21993624 DOI: 10.1038/Nature10530  1
2011 Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, ... ... Gibbs R, et al. The functional spectrum of low-frequency coding variation. Genome Biology. 12: R84. PMID 21917140 DOI: 10.1186/Gb-2011-12-9-R84  1
2011 Sano D, Xie TX, Ow TJ, Zhao M, Pickering CR, Zhou G, Sandulache VC, Wheeler DA, Gibbs RA, Caulin C, Myers JN. Disruptive TP53 mutation is associated with aggressive disease characteristics in an orthotopic murine model of oral tongue cancer. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 17: 6658-70. PMID 21903770 DOI: 10.1158/1078-0432.Ccr-11-0046  1
2011 Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, et al. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Human Mutation. 32: 1450-9. PMID 21901789 DOI: 10.1002/Humu.21587  1
2011 Wong ES, Papenfuss AT, Heger A, Hsu AL, Ponting CP, Miller RD, Fenelon JC, Renfree MB, Gibbs RA, Belov K. Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby. Bmc Genomics. 12: 420. PMID 21854594 DOI: 10.1186/1471-2164-12-420  1
2011 Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. American Journal of Medical Genetics. Part A. 155: 2071-7. PMID 21834044 DOI: 10.1002/Ajmg.A.34165  1
2011 Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI Journal of Bone and Mineral Research. 26: 2798-2803. PMID 21826736 DOI: 10.1002/Jbmr.487  1
2011 Agrawal N, Frederick MJ, Pickering CR, Bettegowda C, Chang K, Li RJ, Fakhry C, Xie TX, Zhang J, Wang J, Zhang N, El-Naggar AK, Jasser SA, Weinstein JN, Treviño L, ... ... Gibbs RA, et al. Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (New York, N.Y.). 333: 1154-7. PMID 21798897 DOI: 10.1126/Science.1206923  1
2011 Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biology. 12: R68. PMID 21787409 DOI: 10.1186/Gb-2011-12-7-R68  1
2011 Bergman JA, Hahne K, Hrycyna CA, Gibbs RA. Lipid and sulfur substituted prenylcysteine analogs as human Icmt inhibitors. Bioorganic & Medicinal Chemistry Letters. 21: 5616-9. PMID 21782433 DOI: 10.1016/J.Bmcl.2011.06.053  1
2011 Butte NF, Voruganti VS, Cole SA, Haack K, Comuzzie AG, Muzny DM, Wheeler DA, Chang K, Hawes A, Gibbs RA. Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children. Physiological Genomics. 43: 1029-37. PMID 21771880 DOI: 10.1152/Physiolgenomics.00019.2011  1
2011 Saulnier DM, Riehle K, Mistretta TA, Diaz MA, Mandal D, Raza S, Weidler EM, Qin X, Coarfa C, Milosavljevic A, Petrosino JF, Highlander S, Gibbs R, Lynch SV, Shulman RJ, et al. Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome. Gastroenterology. 141: 1782-91. PMID 21741921 DOI: 10.1053/J.Gastro.2011.06.072  1
2011 Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, Bustamante CD. Demographic history and rare allele sharing among human populations. Proceedings of the National Academy of Sciences of the United States of America. 108: 11983-8. PMID 21730125 DOI: 10.1073/Pnas.1019276108  1
2011 Bell D, Berchuck A, Birrer M, Chien J, Cramer DW, Dao F, Dhir R, Disaia P, Gabra H, Glenn P, Godwin AK, Gross J, Hartmann L, Huang M, Huntsman DG, ... ... Gibbs RA, et al. Integrated genomic analyses of ovarian carcinoma Nature. 474: 609-615. PMID 21720365 DOI: 10.1038/Nature10166  1
2011 Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 145: 1036-48. PMID 21703448 DOI: 10.1016/J.Cell.2011.05.025  1
2011 Placzek AT, Gibbs RA. New synthetic methodology for the construction of 7-substituted farnesyl diphosphate analogs. Organic Letters. 13: 3576-9. PMID 21699139 DOI: 10.1021/Ol201069X  1
2011 Li D, Tanaka M, Brunicardi FC, Fisher WE, Gibbs RA, Gingras MC. Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 117: 2863-72. PMID 21692047 DOI: 10.1002/Cncr.25858  1
2011 Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA. Whole-genome sequencing for optimized patient management. Science Translational Medicine. 3: 87re3. PMID 21677200 DOI: 10.1126/Scitranslmed.3002243  1
2011 Fawcett GL, Raveendran M, Deiros DR, Chen D, Yu F, Harris RA, Ren Y, Muzny DM, Reid JG, Wheeler DA, Worley KC, Shelton SE, Kalin NH, Milosavljevic A, Gibbs R, et al. Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta). Bmc Genomics. 12: 311. PMID 21668978 DOI: 10.1186/1471-2164-12-311  1
2011 Šmajs D, Zobaníková M, Strouhal M, Čejková D, Dugan-Rocha S, Pospíšilová P, Norris SJ, Albert T, Qin X, Hallsworth-Pepin K, Buhay C, Muzny DM, Chen L, Gibbs RA, Weinstock GM. Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay. Plos One. 6: e20415. PMID 21655244 DOI: 10.1371/Journal.Pone.0020415  1
2011 Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/Hmg/Ddr243  1
2011 Yilmaz P, Kottmann R, Field D, Knight R, Cole JR, Amaral-Zettler L, Gilbert JA, Karsch-Mizrachi I, Johnston A, Cochrane G, Vaughan R, Hunter C, Park J, Morrison N, Rocca-Serra P, ... ... Gibbs RA, et al. Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nature Biotechnology. 29: 415-20. PMID 21552244 DOI: 10.1038/Nbt.1823  1
2011 Brunicardi FC, Gibbs RA, Wheeler DA, Nemunaitis J, Fisher W, Goss J, Chen C. Overview of the development of personalized genomic medicine and surgery. World Journal of Surgery. 35: 1693-9. PMID 21424870 DOI: 10.1007/S00268-011-1056-0  1
2011 Sun T, Aceto N, Meerbrey KL, Kessler JD, Zhou C, Migliaccio I, Nguyen DX, Pavlova NN, Botero M, Huang J, Bernardi RJ, Schmitt E, Hu G, Li MZ, Dephoure N, ... ... Gibbs RA, et al. Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 144: 703-18. PMID 21376233 DOI: 10.1016/J.Cell.2011.02.003  1
2011 Plon SE, Wheeler DA, Strong LC, Tomlinson GE, Pirics M, Meng Q, Cheung HC, Begin PR, Muzny DM, Lewis L, Biegel JA, Gibbs RA. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genetics. 204: 19-25. PMID 21356188 DOI: 10.1016/J.Cancergencyto.2010.11.001  1
2011 Majmudar JD, Hahne K, Hrycyna CA, Gibbs RA. Probing the isoprenylcysteine carboxyl methyltransferase (Icmt) binding pocket: sulfonamide modified farnesyl cysteine (SMFC) analogs as Icmt inhibitors. Bioorganic & Medicinal Chemistry Letters. 21: 2616-20. PMID 21334890 DOI: 10.1016/J.Bmcl.2011.01.078  1
2011 Gibbs RA. Genome-sequencing anniversary. Bringing genomics and genetics back together Science (New York, N.Y.). 331: 548. PMID 21292968 DOI: 10.1126/Science.1203017  1
2011 Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, ... ... Gibbs RA, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/Ng.756  1
2011 Zhou G, Gingras MC, Liu SH, Li D, Li Z, Catania RL, Stehling KM, Li M, Paganelli G, Gibbs RA, Demayo FJ, Fisher WE, Brunicardi FC. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World Journal of Surgery. 35: 1715-24. PMID 21249361 DOI: 10.1007/S00268-010-0939-9  1
2011 Harring TR, Guiteau JJ, Nguyen NT, Cotton RT, Gingras MC, Wheeler DA, O'Mahony CA, Gibbs RA, Brunicardi FC, Goss JA. Building a comprehensive genomic program for hepatocellular carcinoma. World Journal of Surgery. 35: 1746-50. PMID 21225260 DOI: 10.1007/S00268-010-0954-X  1
2011 Nguyen NT, Cotton RT, Harring TR, Guiteau JJ, Gingras MC, Wheeler DA, O'Mahony CA, Gibbs RA, Brunicardi FC, Goss JA. A primer on a hepatocellular carcinoma bioresource bank using the cancer genome atlas guidelines: practical issues and pitfalls. World Journal of Surgery. 35: 1732-7. PMID 21221581 DOI: 10.1007/S00268-010-0953-Y  1
2011 Daines B, Wang H, Wang L, Li Y, Han Y, Emmert D, Gelbart W, Wang X, Li W, Gibbs R, Chen R. The Drosophila melanogaster transcriptome by paired-end RNA sequencing. Genome Research. 21: 315-24. PMID 21177959 DOI: 10.1101/Gr.107854.110  1
2011 Liu SH, Patel S, Gingras MC, Nemunaitis J, Zhou G, Chen C, Li M, Fisher W, Gibbs R, Brunicardi FC. PDX-1: demonstration of oncogenic properties in pancreatic cancer. Cancer. 117: 723-33. PMID 20886630 DOI: 10.1002/Cncr.25629  1
2011 Liu S, Rao D, Nemunaitis J, Senzer N, Dawson D, Gingras M, Wang Z, Gibbs R, Norman M, Templeton N, DeMayo F, Stehling K, Fisher W, Brunicardi C. A novel therapeutic strategy for pancreatic neoplasia using a novel RNAi platform targeting PDX-1 Nature Precedings. DOI: 10.1038/Npre.2011.6047.1  1
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