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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
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Year Citation  Score
2020 Gibbs RA. The Human Genome Project changed everything. Nature Reviews. Genetics. PMID 32770171 DOI: 10.1038/S41576-020-0275-3  0.354
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  0.304
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  0.305
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  0.344
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  0.325
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  0.354
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  0.326
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  0.341
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  0.307
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  0.305
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  0.318
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  0.357
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  0.348
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  0.31
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  0.377
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  0.31
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  0.327
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  0.345
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  0.325
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  0.368
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  0.31
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  0.333
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  0.308
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  0.36
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  0.343
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  0.352
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  0.331
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  0.356
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  0.309
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  0.332
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  0.308
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  0.398
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  0.337
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  0.327
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  0.362
2019 Eckstein OS, Gulati N, Forbes L, Peckham-Gregory E, Ozuah NW, Poli MC, Vogel T, Mace EM, Orange JS, Caldwell J, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, ... ... Gibbs R, et al. Genomic Characterization of a Pediatric Cohort with Non-Malignant Lymphoproliferative Disorders Blood. 134: 83-83. DOI: 10.1182/Blood-2019-131884  0.306
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  0.301
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  0.318
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  0.35
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  0.354
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  0.347
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  0.345
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  0.304
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  0.352
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  0.325
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  0.348
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  0.363
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  0.309
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  0.323
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  0.375
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  0.353
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  0.34
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  0.344
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  0.347
2018 Lin F, Potter S, Ting M, Chandramohan R, Kakkar N, Wang T, Raesz-Martinez R, Scollon S, Bergstrom K, Lopez-Terrada D, Adesina A, Mohila C, Whitehead W, Ramamurthy U, Hilsenbeck S, ... ... Gibbs R, et al. TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY Neuro-Oncology. 20: i184-i184. DOI: 10.1093/Neuonc/Noy059.708  0.305
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  0.335
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  0.346
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  0.336
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  0.335
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  0.36
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  0.324
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  0.35
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  0.375
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  0.313
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  0.357
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  0.348
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  0.33
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  0.338
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  0.342
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  0.306
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  0.385
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  0.31
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  0.323
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  0.32
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  0.355
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  0.359
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  0.351
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  0.327
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  0.373
2017 Chinn I, Forbes LR, Nicholas SK, Mace E, Coban-Akdemir Z, Rider NL, Jhangiani SN, Wiszniewski WK, Gibbs RA, Lupski JR, Orange J. Whole Exome Sequencing Identifies Potential Defects in Multiple Immunodeficiency-Associated Genes in Individual Patients and Families with Primary Immunodeficiency Diseases Journal of Allergy and Clinical Immunology. 139: AB172. DOI: 10.1016/J.Jaci.2016.12.566  0.33
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  0.324
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  0.351
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  0.346
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  0.358
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  0.711
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  0.322
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  0.327
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  0.301
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  0.316
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  0.316
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  0.346
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  0.304
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  0.306
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  0.31
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  0.308
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  0.338
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  0.319
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  0.32
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  0.346
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  0.723
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  0.722
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  0.307
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  0.336
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  0.332
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  0.34
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  0.372
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  0.313
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  0.354
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  0.339
2016 Bailey P, Chang DK, Nones K, Johns AL, Patch AM, Gingras MC, Miller DK, Christ AN, Bruxner TJ, Quinn MC, Nourse C, Murtaugh LC, Harliwong I, Idrisoglu S, Manning S, ... ... Gibbs RA, et al. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. PMID 26909576 DOI: 10.1038/Nature16965  0.31
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  0.343
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  0.363
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  0.304
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  0.307
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  0.333
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  0.302
2016 Herati A, Butler P, Cengiz c, Bainbridge M, Lupski J, Gibbs R, Lipshultz L, Lamb D. MP70-01 IFT140 IS A NOVEL CANDIDATE GENE FOR IMPAIRED SPERMATOGENESIS: IDENTIFICATION BY WHOLE EXOME SEQUENCING AND VALIDATION WITH SANGER SEQUENCING Journal of Urology. 195. DOI: 10.1016/J.Juro.2016.02.1426  0.352
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  0.54
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  0.365
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  0.34
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  0.369
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  0.351
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  0.309
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  0.377
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  0.395
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  0.308
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  0.305
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  0.365
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  0.324
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  0.374
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  0.378
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  0.333
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  0.321
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  0.319
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  0.35
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  0.312
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  0.318
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  0.31
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  0.374
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  0.355
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  0.333
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  0.363
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  0.339
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  0.305
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  0.312
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  0.339
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  0.334
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  0.314
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  0.355
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  0.317
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  0.346
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  0.328
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  0.376
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  0.333
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  0.305
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  0.322
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  0.338
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  0.314
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  0.345
2015 Gibbs RA. The molecular architecture of disease Pathology. 47: S30. DOI: 10.1097/01.Pat.0000461413.96476.2F  0.335
2015 Gibbs RA. Clinical translation of genomics Pathology. 47: S28. DOI: 10.1097/01.Pat.0000461405.81229.Ee  0.36
2015 Lin FY, Bavle A, Wheeler D, Gibbs R, Lam S, Su J, Chintagumpala M, Adesina A, Roy A, Plon SE, Parsons DW. GE-06 * IDENTIFICATION OF TARGETABLE MUTATIONS IN RARE PEDIATRIC BRAIN TUMORS BY CLINICAL WHOLE EXOME SEQUENCING Neuro-Oncology. 17: iii8-iii8. DOI: 10.1093/Neuonc/Nov061.30  0.31
2014 Chipman AD, Ferrier DE, Brena C, Qu J, Hughes DS, Schröder R, Torres-Oliva M, Znassi N, Jiang H, Almeida FC, Alonso CR, Apostolou Z, Aqrawi P, Arthur W, Barna JC, ... ... Gibbs RA, et al. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. Plos Biology. 12: e1002005. PMID 25423365 DOI: 10.1371/Journal.Pbio.1002005  0.384
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  0.341
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  0.328
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  0.313
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  0.312
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  0.311
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  0.35
2014 Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, ... ... Gibbs RA, et al. Gibbon genome and the fast karyotype evolution of small apes. Nature. 513: 195-201. PMID 25209798 DOI: 10.1038/Nature13679  0.336
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  0.348
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  0.303
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  0.344
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  0.318
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  0.313
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  0.348
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  0.354
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  0.301
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  0.365
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  0.322
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  0.302
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  0.323
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  0.324
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  0.336
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  0.335
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  0.323
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  0.322
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  0.326
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  0.314
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  0.368
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  0.373
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  0.336
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  0.334
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  0.353
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  0.365
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  0.329
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  0.308
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  0.338
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  0.335
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  0.327
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  0.341
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  0.306
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  0.311
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  0.352
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  0.309
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  0.309
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  0.322
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  0.333
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  0.358
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  0.341
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  0.332
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  0.331
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  0.376
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  0.306
2014 Parsons DW, Roy A, Monzon FA, Lopez-Terrada DH, Chintagumpala MM, Berg SL, Hilsenbeck SG, Wang T, Adesina AM, Li X, Kerstein RA, Scollon S, Bergstrom K, Street RL, McCullough LB, ... ... Gibbs RA, et al. ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC Neuro-Oncology. 16: iii24-iii24. DOI: 10.1093/Neuonc/Nou208.5  0.301
2014 Mezina A, Gandhi K, Sabo A, Muzny D, Gibbs R, Hegde M, Karpen SJ. 845 Whole Exome Sequencing Identifies ABCB4 Gene Variants As Modifiers of Biliary Atresia Outcomes Gastroenterology. 146: S-928. DOI: 10.1016/S0016-5085(14)63373-4  0.333
2014 Brennan C, Verhaak R, McKenna A, Campos B, Noushmehr H, Salama S, Zheng S, Chakravarty D, Sanborn J, Berman S, Beroukhim R, Bernard B, Wu C, Genovese G, Shmulevich I, ... ... Gibbs R, et al. The Somatic Genomic Landscape of Glioblastoma Cell. 157: 753. DOI: 10.1016/J.Cell.2014.04.004  0.318
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  0.313
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  0.319
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  0.344
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  0.362
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  0.359
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  0.375
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  0.348
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  0.335
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  0.38
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  0.38
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  0.353
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  0.333
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  0.316
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  0.33
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  0.305
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  0.34
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  0.318
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  0.358
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  0.315
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  0.324
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  0.345
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  0.309
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  0.355
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  0.316
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  0.325
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  0.351
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  0.618
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  0.328
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  0.31
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  0.32
2013 Ritter D, Walker K, Kwon M, Lulla P, Bollard CM, Sheehan A, Heslop HE, Gibbs RA, Wheeler DA, Mims MP. Whole genome sequencing of sporadic Burkitt lymphoma in HIV-infected and uninfected patients. Journal of Clinical Oncology. 31: 8577-8577. DOI: 10.1200/Jco.2013.31.15_Suppl.8577  0.304
2013 Sheehan VA, Crosby JR, Sabo A, Howard TA, Muzny DM, Reid JG, Aygun B, Boerwinkle E, Gibbs RA, Ware RE. FOXO3 Variants Are Associated With Lower Fetal Hemoglobin Levels In Children With Sickle Cell Disease Blood. 122: 778-778. DOI: 10.1182/Blood.V122.21.778.778  0.361
2013 Lotta LA, Fornili M, Ambrogi F, Mancuso ME, Santagostino E, Garagiola I, Seregni S, Muzny DM, Metcalf G, Gibbs RA, Biganzoli E, Peyvandi F. Rare Genetic Variants Of The Protein-Coding Area Of The Genome and The Risk Of Inhibitor Development: An Exome-Sequencing Study Of 28 Patients With Severe Hemophilia A Blood. 122: 571-571. DOI: 10.1182/Blood.V122.21.571.571  0.383
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  0.321
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  0.355
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  0.334
2012 Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL, Miller DK, Wilson PJ, Patch AM, Wu J, Chang DK, Cowley MJ, Gardiner BB, Song S, Harliwong I, ... ... Gibbs RA, et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 491: 399-405. PMID 23103869 DOI: 10.1038/Nature11547  0.342
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  0.336
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  0.301
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  0.332
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  0.366
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  0.563
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  0.344
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  0.303
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  0.34
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  0.316
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  0.372
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  0.314
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  0.337
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  0.395
2012 Gibbs RA, Rogers J. Genomics: Gorilla gorilla gorilla Nature. 483: 164-165. PMID 22398552 DOI: 10.1038/483164A  0.309
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  0.363
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  0.393
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  0.328
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  0.309
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  0.318
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  0.369
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  0.367
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  0.344
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  0.571
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  0.31
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  0.354
2012 Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, IV WH, Muzny DM, Rosendaal FR, Gibbs RA, Peyvandi F. Rare Coding Single Nucleotide Variants of ADAMTS13 Are Associated with Deep Vein Thrombosis in a Next-Generation Sequencing Association Study Blood. 120: 107-107. DOI: 10.1182/Blood.V120.21.107.107  0.357
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  0.35
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  0.314
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  0.371
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  0.331
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  0.58
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  0.359
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  0.354
2011 Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 147: 32-43. PMID 21962505 DOI: 10.1016/J.Cell.2011.09.008  0.388
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  0.331
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  0.345
2011 Renfree MB, Papenfuss AT, Deakin JE, Lindsay J, Heider T, Belov K, Rens W, Waters PD, Pharo EA, Shaw G, Wong ES, Lefèvre CM, Nicholas KR, Kuroki Y, Wakefield MJ, ... ... Gibbs RA, et al. Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development. Genome Biology. 12: R81. PMID 21854559 DOI: 10.1186/Gb-2011-12-8-R81  0.37
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  0.355
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  0.328
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  0.348
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  0.326
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  0.318
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  0.32
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  0.374
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  0.346
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  0.357
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  0.325
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  0.365
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  0.302
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  0.329
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  0.38
2011 Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, ... ... Gibbs RA, et al. Comparative and demographic analysis of orang-utan genomes. Nature. 469: 529-33. PMID 21270892 DOI: 10.1038/Nature09687  0.353
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  0.34
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  0.308
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  0.315
2011 Lotta LA, Wang M, Yu J, Yu F, Martinelli I, Passamonti S, Pappalardo E, Menegatti M, Lewis LL, Hale W, Muzny DM, Mannucci PM, Gibbs RA, Peyvandi F. Identification of DEEP Vein Thrombosis GENETIC RISK Variants by NEXT GENERATION Sequencing of Hemostatic Genes Blood. 118: 710-710. DOI: 10.1182/Blood.V118.21.710.710  0.405
2011 Lotta LA, Wu HM, Scully MA, Noris M, Veyradier A, Mackie IJ, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Palla R, et al. Residual Plasmatic Activity of ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura Correlates with Disease Phenotype Blood. 118: 2219-2219. DOI: 10.1182/Blood.V118.21.2219.2219  0.302
2010 Degnan PH, Leonardo TE, Cass BN, Hurwitz B, Stern D, Gibbs RA, Richards S, Moran NA. Dynamics of genome evolution in facultative symbionts of aphids. Environmental Microbiology. 12: 2060-9. PMID 21966902 DOI: 10.1111/J.1462-2920.2009.02085.X  0.366
2010 Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, Hixson JE, Rea TJ, Muzny DM, Lewis LR, Wheeler DA, Sabo A, Lusk C, Weiss KG, Akbar H, ... ... Gibbs R, et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nature Communications. 1: 131. PMID 21119644 DOI: 10.1038/Ncomms1130  0.348
2010 Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 467: 1061-73. PMID 20981092 DOI: 10.1038/Nature09534  0.406
2010 Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, ... ... Gibbs RA, ... ... Gibbs RA, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 467: 52-8. PMID 20811451 DOI: 10.1038/Nature09298  0.335
2010 Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA. Whole exome capture in solution with 3 Gbp of data. Genome Biology. 11: R62. PMID 20565776 DOI: 10.1186/Gb-2010-11-6-R62  0.35
2010 Nelson KE, Weinstock GM, Highlander SK, Worley KC, Creasy HH, Wortman JR, Rusch DB, Mitreva M, Sodergren E, Chinwalla AT, Feldgarden M, Gevers D, Haas BJ, Madupu R, ... ... Gibbs RA, et al. A catalog of reference genomes from the human microbiome. Science (New York, N.Y.). 328: 994-9. PMID 20489017 DOI: 10.1126/Science.1183605  0.375
2010 Shigenobu S, Richards S, Cree AG, Morioka M, Fukatsu T, Kudo T, Miyagishima S, Gibbs RA, Stern DL, Nakabachi A. A full-length cDNA resource for the pea aphid, Acyrthosiphon pisum Insect Molecular Biology. 19: 23-31. PMID 20482637 DOI: 10.1111/J.1365-2583.2009.00946.X  0.372
2010 Wang H, Chattopadhyay A, Li Z, Daines B, Li Y, Gao C, Gibbs R, Zhang K, Chen R. Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Research. 20: 981-8. PMID 20472684 DOI: 10.1101/Gr.102921.109  0.375
2010 Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, ... ... Gibbs RA, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. The New England Journal of Medicine. 362: 1181-91. PMID 20220177 DOI: 10.1056/Nejmoa0908094  0.403
2010 Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J, Alkan C, Kidd JM, Sun Y, Drautz DI, Bouffard P, ... ... Gibbs RA, et al. Complete Khoisan and Bantu genomes from southern Africa. Nature. 463: 943-7. PMID 20164927 DOI: 10.1038/Nature08795  0.379
2010 Worley KC, Gibbs RA. Genetics: Decoding a national treasure. Nature. 463: 303-4. PMID 20090741 DOI: 10.1038/463303A  0.355
2010 Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Beukeboom LW, Desplan C, ... ... Gibbs RA, et al. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science (New York, N.Y.). 327: 343-8. PMID 20075255 DOI: 10.1126/Science.1178028  0.363
2010 Shen Y, Wan Z, Coarfa C, Drabek R, Chen L, Ostrowski EA, Liu Y, Weinstock GM, Wheeler DA, Gibbs RA, Yu F. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Research. 20: 273-80. PMID 20019143 DOI: 10.1101/Gr.096388.109  0.308
2010 Krzysiak AJ, Aditya AV, Hougland JL, Fierke CA, Gibbs RA. Synthesis and screening of a CaaL peptide library versus FTase reveals a surprising number of substrates. Bioorganic & Medicinal Chemistry Letters. 20: 767-70. PMID 20005705 DOI: 10.1016/J.Bmcl.2009.11.011  0.777
2010 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. The “Minimum Information about an ENvironmental Sequence” (MIENS) specification Nature Precedings. 5: 1-1. DOI: 10.1038/Npre.2010.5252.1  0.332
2010 JANDA KD, ASHLEY JA, JONES TM, MCLEOD DA, SCHLOEDER DM, WEINHOUSE MI, LERNER RA, GIBBS RA, BENKOVIC PA, HILHORST R, BENKOVIC SJ. ChemInform Abstract: Catalytic Antibodies with Acyl-Transfer Capabilities: Mechanistic and Kinetic Investigations. Cheminform. 22: no-no. DOI: 10.1002/chin.199115055  0.316
2009 Chain PS, Grafham DV, Fulton RS, Fitzgerald MG, Hostetler J, Muzny D, Ali J, Birren B, Bruce DC, Buhay C, Cole JR, Ding Y, Dugan S, Field D, Garrity GM, ... Gibbs R, et al. Genomics. Genome project standards in a new era of sequencing. Science (New York, N.Y.). 326: 236-7. PMID 19815760 DOI: 10.1126/Science.1180614  0.351
2009 Temple G, Gerhard DS, Rasooly R, Feingold EA, Good PJ, Robinson C, Mandich A, Derge JG, Lewis J, Shoaf D, Collins FS, Jang W, Wagner L, Shenmen CM, ... ... Gibbs RA, et al. The completion of the Mammalian Gene Collection (MGC). Genome Research. 19: 2324-33. PMID 19767417 DOI: 10.1101/Gr.095976.109  0.341
2009 Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genetics. 41: 1061-7. PMID 19718026 DOI: 10.1038/Ng.437  0.354
2009 Sillanpää J, Nallapareddy SR, Qin X, Singh KV, Muzny DM, Kovar CL, Nazareth LV, Gibbs RA, Ferraro MJ, Steckelberg JM, Weinstock GM, Murray BE. A collagen-binding adhesin, Acb, and ten other putative MSCRAMM and pilus family proteins of Streptococcus gallolyticus subsp. gallolyticus (Streptococcus bovis Group, biotype I). Journal of Bacteriology. 191: 6643-53. PMID 19717590 DOI: 10.1128/Jb.00909-09  0.333
2009 Daines B, Wang H, Li Y, Han Y, Gibbs R, Chen R. High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics. 182: 935-41. PMID 19528327 DOI: 10.1534/Genetics.109.103218  0.371
2009 Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, ... ... Gibbs RA, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41: 739-45. PMID 19430481 DOI: 10.1038/Ng.366  0.33
2009 Gibbs RA, Taylor JF, Van Tassell CP, Barendse W, Eversole KA, Gill CA, Green RD, Hamernik DL, Kappes SM, Lien S, Matukumalli LK, McEwan JC, Nazareth LV, Schnabel RD, et al. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (New York, N.Y.). 324: 528-32. PMID 19390050 DOI: 10.1126/Science.1167936  0.34
2009 Elsik CG, Tellam RL, Worley KC, Gibbs RA, Muzny DM, Weinstock GM, Adelson DL, Eichler EE, Elnitski L, Guigó R, Hamernik DL, Kappes SM, Lewin HA, Lynn DJ, et al. The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (New York, N.Y.). 324: 522-8. PMID 19390049 DOI: 10.1126/Science.1169588  0.638
2009 Donelson JL, Hodges-Loaiza HB, Henriksen BS, Hrycyna CA, Gibbs RA. Solid-phase synthesis of prenylcysteine analogs. The Journal of Organic Chemistry. 74: 2975-81. PMID 19320430 DOI: 10.1021/Jo8021692  0.707
2009 Petrosino JF, Highlander S, Luna RA, Gibbs RA, Versalovic J. Metagenomic pyrosequencing and microbial identification Clinical Chemistry. 55: 856-866. PMID 19264858 DOI: 10.1373/Clinchem.2008.107565  0.371
2009 Vakoc CR, Wen YY, Gibbs RA, Johnstone CN, Rustgi AK, Blobel GA. Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genetics and Cytogenetics. 189: 140-1. PMID 19215798 DOI: 10.1016/J.Cancergencyto.2008.10.014  0.348
2009 Hougland JL, Lamphear CL, Scott SA, Gibbs RA, Fierke CA. Context-dependent substrate recognition by protein farnesyltransferase. Biochemistry. 48: 1691-701. PMID 19199818 DOI: 10.1021/Bi801710G  0.549
2009 Maheshwari M, Shi J, Badner JA, Skol A, Willour VL, Muzny DM, Wheeler DA, Gerald FR, Detera-Wadleigh S, McMahon FJ, Potash JB, Gershon ES, Liu C, Gibbs RA. Common and rare variants of DAOA in bipolar disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 960-6. PMID 19194963 DOI: 10.1002/Ajmg.B.30925  0.318
2009 Voidonikolas G, Gingras MC, Hodges S, McGuire AL, Chen C, Gibbs RA, Brunicardi FC, Fisher WE. Developing a tissue resource to characterize the genome of pancreatic cancer. World Journal of Surgery. 33: 723-31. PMID 19137368 DOI: 10.1007/S00268-008-9877-1  0.331
2009 Voidonikolas G, Kreml SS, Chen C, Fisher WE, Brunicardi FC, Gibbs RA, Gingras MC. Basic principles and technologies for deciphering the genetic map of cancer. World Journal of Surgery. 33: 615-29. PMID 19115029 DOI: 10.1007/S00268-008-9851-Y  0.324
2009 Rodriguez JA, Guiteau JJ, Nazareth L, Reid JG, Goss JA, Gibbs RA, Gingras MC. Sequencing the full-length of the phosphatase and tensin homolog (PTEN) gene in hepatocellular carcinoma (HCC) using the 454 GS20 and Illumina GA DNA sequencing platforms. World Journal of Surgery. 33: 647-52. PMID 19082655 DOI: 10.1007/S00268-008-9852-X  0.345
2009 Hampton OA, Den Hollander P, Miller CA, Delgado DA, Li J, Coarfa C, Harris RA, Richards S, Scherer SE, Muzny DM, Gibbs RA, Lee AV, Milosavljevic A. A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Research. 19: 167-77. PMID 19056696 DOI: 10.1101/Gr.080259.108  0.335
2009 Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Investigative Ophthalmology & Visual Science. 50: 1336-43. PMID 18936139 DOI: 10.1167/Iovs.08-2589  0.326
2009 Gingras M, Liu S, Zhou G, Li M, Catania R, Fisher W, Gibbs R, Brunicardi F. 50: The Identification of Numerous Somatic and Germline Mutations of PDX-1 in Pancreatic Cancer Using Genomic Analysis Journal of Surgical Research. 151: 193-194. DOI: 10.1016/J.Jss.2008.11.060  0.317
2008 Ding L, Getz G, Wheeler DA, Mardis ER, McLellan MD, Cibulskis K, Sougnez C, Greulich H, Muzny DM, Morgan MB, Fulton L, Fulton RS, Zhang Q, Wendl MC, Lawrence MS, ... ... Gibbs RA, et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 455: 1069-75. PMID 18948947 DOI: 10.1038/Nature07423  0.33
2008 McLendon R, Friedman A, Bigner D, Van Meir EG, Brat DJ, Mastrogianakis GM, Olson JJ, Mikkelsen T, Lehman N, Aldape K, Yung WKA, Bogler O, Weinstein JN, VandenBerg S, Berger M, ... ... Gibbs RA, et al. Comprehensive genomic characterization defines human glioblastoma genes and core pathways Nature. 455: 1061-1068. PMID 18772890 DOI: 10.1038/Nature07385  0.353
2008 Srivatsan A, Han Y, Peng J, Tehranchi AK, Gibbs R, Wang JD, Chen R. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies Plos Genetics. 4. PMID 18670626 DOI: 10.1371/Journal.Pgen.1000139  0.374
2008 Twigger SN, Pruitt KD, Fernández-Suárez XM, Karolchik D, Worley KC, Maglott DR, Brown G, Weinstock G, Gibbs RA, Kent J, Birney E, Jacob HJ. What everybody should know about the rat genome and its online resources. Nature Genetics. 40: 523-7. PMID 18443589 DOI: 10.1038/Ng0508-523  0.308
2008 Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, ... ... Gibbs RA, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 452: 872-6. PMID 18421352 DOI: 10.1038/Nature06884  0.383
2008 Richards S, Gibbs RA, Weinstock GM, Brown SJ, Denell R, Beeman RW, Gibbs R, Beeman RW, Brown SJ, Bucher G, Friedrich M, Grimmelikhuijzen CJ, Klingler M, Lorenzen M, ... ... Gibbs RA, ... ... Gibbs RA, et al. The genome of the model beetle and pest Tribolium castaneum. Nature. 452: 949-55. PMID 18362917 DOI: 10.1038/Nature06784  0.339
2008 Park Y, Aikins J, Wang LJ, Beeman RW, Oppert B, Lord JC, Brown SJ, Lorenzen MD, Richards S, Weinstock GM, Gibbs RA. Analysis of transcriptome data in the red flour beetle, Tribolium castaneum. Insect Biochemistry and Molecular Biology. 38: 380-6. PMID 18342244 DOI: 10.1016/J.Ibmb.2007.09.008  0.362
2008 Durfee T, Nelson R, Baldwin S, Plunkett G, Burland V, Mau B, Petrosino JF, Qin X, Muzny DM, Ayele M, Gibbs RA, Csörgo B, Pósfai G, Weinstock GM, Blattner FR. The complete genome sequence of Escherichia coli DH10B: Insights into the biology of a laboratory workhorse Journal of Bacteriology. 190: 2597-2606. PMID 18245285 DOI: 10.1128/Jb.01695-07  0.382
2008 Rawat DS, Krzysiak AJ, Gibbs RA. Synthesis and biochemical evaluation of 3,7-disubstituted farnesyl diphosphate analogues. The Journal of Organic Chemistry. 73: 1881-7. PMID 18225915 DOI: 10.1021/Jo701725B  0.583
2008 Worley KC, Weinstock GM, Gibbs RA. Rats in the genomic era Physiological Genomics. 32: 273-282. PMID 18029439 DOI: 10.1152/Physiolgenomics.00208.2007  0.31
2007 Miller W, Rosenbloom K, Hardison RC, Hou M, Taylor J, Raney B, Burhans R, King DC, Baertsch R, Blankenberg D, Kosakovsky Pond SL, Nekrutenko A, Giardine B, Harris RS, Tyekucheva S, ... ... Gibbs RA, et al. 28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Research. 17: 1797-808. PMID 17984227 DOI: 10.1101/Gr.6761107  0.364
2007 Weir BA, Woo MS, Getz G, Perner S, Ding L, Beroukhim R, Lin WM, Province MA, Kraja A, Johnson LA, Shah K, Sato M, Thomas RK, Barletta JA, Borecki IB, ... ... Gibbs RA, et al. Characterizing the cancer genome in lung adenocarcinoma. Nature. 450: 893-8. PMID 17982442 DOI: 10.1038/Nature06358  0.327
2007 Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, ... ... Gibbs RA, ... ... Gibbs RA, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 449: 913-8. PMID 17943131 DOI: 10.1038/Nature06250  0.315
2007 Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, Song X, Richmond TA, Middle CM, Rodesch MJ, Packard CJ, Weinstock GM, Gibbs RA. Direct selection of human genomic loci by microarray hybridization. Nature Methods. 4: 903-5. PMID 17934467 DOI: 10.1038/Nmeth1111  0.365
2007 Krzysiak AJ, Scott SA, Hicks KA, Fierke CA, Gibbs RA. Evaluation of protein farnesyltransferase substrate specificity using synthetic peptide libraries. Bioorganic & Medicinal Chemistry Letters. 17: 5548-51. PMID 17804232 DOI: 10.1016/J.Bmcl.2007.08.024  0.536
2007 Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, ... ... Gibbs RA, et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 447: 799-816. PMID 17571346 DOI: 10.1038/Nature05874  0.359
2007 Margulies EH, Cooper GM, Asimenos G, Thomas DJ, Dewey CN, Siepel A, Birney E, Keefe D, Schwartz AS, Hou M, Taylor J, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, ... ... Gibbs RA, et al. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Research. 17: 760-74. PMID 17567995 DOI: 10.1101/Gr.6034307  0.364
2007 Krzysiak AJ, Rawat DS, Scott SA, Pais JE, Handley M, Harrison ML, Fierke CA, Gibbs RA. Combinatorial modulation of protein prenylation. Acs Chemical Biology. 2: 385-9. PMID 17530735 DOI: 10.1021/Cb700062B  0.677
2007 Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, et al. Evolutionary and biomedical insights from the rhesus macaque genome. Science (New York, N.Y.). 316: 222-34. PMID 17431167 DOI: 10.1126/Science.1139247  0.36
2007 Cotton RG, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, ... ... Gibbs R, et al. Recommendations of the 2006 Human Variome Project meeting. Nature Genetics. 39: 433-6. PMID 17392799 DOI: 10.1038/Ng2024  0.303
2007 Solignac M, Zhang L, Mougel F, Li B, Vautrin D, Monnerot M, Cornuet JM, Worley KC, Weinstock GM, Gibbs RA. The genome of Apis mellifera: Dialog between linkage mapping and sequence assembly Genome Biology. 8. PMID 17381825 DOI: 10.1186/Gb-2007-8-3-403  0.317
2006 Johnson ME, Cheng Z, Morrison VA, Scherer S, Ventura M, Gibbs RA, Green ED, Eichler EE. Recurrent duplication-driven transposition of DNA during hominoid evolution. Proceedings of the National Academy of Sciences of the United States of America. 103: 17626-31. PMID 17101969 DOI: 10.1073/Pnas.0605426103  0.329
2006 Sodergren E, Shen Y, Song X, Zhang L, Gibbs RA, Weinstock GM. Shedding genomic light on Aristotle's lantern Developmental Biology. 300: 2-8. PMID 17097628 DOI: 10.1016/J.Ydbio.2006.10.005  0.38
2006 Sodergren E, Weinstock GM, Davidson EH, Cameron RA, Gibbs RA, Angerer RC, Angerer LM, Arnone MI, Burgess DR, Burke RD, Coffman JA, Dean M, Elphick MR, Ettensohn CA, et al. The genome of the sea urchin Strongylocentrotus purpuratus. Science (New York, N.Y.). 314: 941-52. PMID 17095691 DOI: 10.1126/Science.1133609  0.632
2006 Elsik CG, Worley KC, Zhang L, Milshina NV, Jiang H, Reese JT, Childs KL, Venkatraman A, Dickens CM, Weinstock GM, Gibbs RA. Community annotation: procedures, protocols, and supporting tools. Genome Research. 16: 1329-33. PMID 17065605 DOI: 10.1101/Gr.5580606  0.305
2006 Donelson JL, Hodges HB, Macdougall DD, Henriksen BS, Hrycyna CA, Gibbs RA. Amide-substituted farnesylcysteine analogs as inhibitors of human isoprenylcysteine carboxyl methyltransferase. Bioorganic & Medicinal Chemistry Letters. 16: 4420-3. PMID 16777414 DOI: 10.1016/J.Bmcl.2006.05.029  0.705
2006 Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, ... ... Gibbs RA, et al. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 440: 1194-8. PMID 16641997 DOI: 10.1038/Nature04728  0.356
2006 McGuire AL, Gibbs RA. Genetics. No longer de-identified. Science (New York, N.Y.). 312: 370-1. PMID 16627725 DOI: 10.1126/Science.1125339  0.301
2006 Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, ... ... Gibbs RA, et al. The finished DNA sequence of human chromosome 12. Nature. 440: 346-51. PMID 16541075 DOI: 10.1038/Nature04569  0.319
2005 Zhang J, Wheeler DA, Yakub I, Wei S, Sood R, Rowe W, Liu PP, Gibbs RA, Buetow KH. SNPdetector: a software tool for sensitive and accurate SNP detection. Plos Computational Biology. 1: e53. PMID 16261194 DOI: 10.1371/Journal.Pcbi.0010053  0.32
2005 Gibbs R. Deeper into the genome Nature. 437: 1233-1234. PMID 16251930 DOI: 10.1038/4371233A  0.329
2005 Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. Plos Genetics. 1: e41. PMID 16205789 DOI: 10.1371/Journal.Pgen.0010041  0.335
2005 Henriksen BS, Anderson JL, Hrycyna CA, Gibbs RA. Synthesis of desthio prenylcysteine analogs: sulfur is important for biological activity. Bioorganic & Medicinal Chemistry Letters. 15: 5080-3. PMID 16183278 DOI: 10.1016/J.Bmcl.2005.07.075  0.705
2005 Reigard SA, Zahn TJ, Haworth KB, Hicks KA, Fierke CA, Gibbs RA. Interplay of isoprenoid and peptide substrate specificity in protein farnesyltransferase. Biochemistry. 44: 11214-23. PMID 16101305 DOI: 10.1021/Bi050725L  0.74
2005 Henriksen BS, Zahn TJ, Evanseck JD, Firestine SM, Gibbs RA. Computational and conformational evaluation of FTase alternative substrates: insight into a novel enzyme binding pocket. Journal of Chemical Information and Modeling. 45: 1047-52. PMID 16045300 DOI: 10.1021/Ci0496550  0.7
2005 Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, Clawson H, Spieth J, Hillier LW, Richards S, Weinstock GM, Wilson RK, Gibbs RA, Kent WJ, Miller W, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Research. 15: 1034-50. PMID 16024819 DOI: 10.1101/Gr.3715005  0.335
2005 Anderson JL, Henriksen BS, Gibbs RA, Hrycyna CA. The isoprenoid substrate specificity of isoprenylcysteine carboxylmethyltransferase: development of novel inhibitors. The Journal of Biological Chemistry. 280: 29454-61. PMID 15946942 DOI: 10.1074/Jbc.M504982200  0.713
2005 Eichinger L, Pachebat JA, Glöckner G, Rajandream MA, Sucgang R, Berriman M, Song J, Olsen R, Szafranski K, Xu Q, Tunggal B, Kummerfeld S, Madera M, Konfortov BA, Rivero F, ... ... Gibbs R, et al. The genome of the social amoeba Dictyostelium discoideum. Nature. 435: 43-57. PMID 15875012 DOI: 10.1038/Nature03481  0.332
2005 Milosavljevic A, Harris RA, Sodergren EJ, Jackson AR, Kalafus KJ, Hodgson A, Cree A, Dai W, Csuros M, Zhu B, de Jong PJ, Weinstock GM, Gibbs RA. Pooled genomic indexing of rhesus macaque. Genome Research. 15: 292-301. PMID 15687293 DOI: 10.1101/Gr.3162505  0.343
2005 Richards S, Liu Y, Bettencourt BR, Hradecky P, Letovsky S, Nielsen R, Thornton K, Hubisz MJ, Chen R, Meisel RP, Couronne O, Hua S, Smith MA, Zhang P, Liu J, ... ... Gibbs RA, et al. Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Research. 15: 1-18. PMID 15632085 DOI: 10.1101/Gr.3059305  0.371
2004 Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, ... ... Gibbs RA, et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Research. 14: 2121-7. PMID 15489334 DOI: 10.1101/Gr.2596504  0.344
2004 Li J, Jiang T, Mao JH, Balmain A, Peterson L, Harris C, Rao PH, Havlak P, Gibbs R, Cai WW. Genomic segmental polymorphisms in inbred mouse strains. Nature Genetics. 36: 952-4. PMID 15322544 DOI: 10.1038/Ng1417  0.314
2004 McFarland MJ, Porter AC, Rakhshan FR, Rawat DS, Gibbs RA, Barker EL. A role for caveolae/lipid rafts in the uptake and recycling of the endogenous cannabinoid anandamide. The Journal of Biological Chemistry. 279: 41991-7. PMID 15292270 DOI: 10.1074/Jbc.M407250200  0.536
2004 Belmont JW, Gibbs RA. Genome-wide linkage disequilibrium and haplotype maps. American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice. 4: 253-62. PMID 15287819 DOI: 10.2165/00129785-200404040-00005  0.323
2004 Wu JQ, Garcia AM, Hulyk S, Sneed A, Kowis C, Yuan Y, Steffen D, McPherson JD, Gunaratne PH, Gibbs RA. Large-scale RT-PCR recovery of full-length cDNA clones. Biotechniques. 36: 690-6, 698-700. PMID 15088387 DOI: 10.2144/04364Dd03  0.31
2004 Havlak P, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Weinstock GM, Gibbs RA. The Atlas genome assembly system Genome Research. 14: 721-732. PMID 15060016 DOI: 10.1101/Gr.2264004  0.354
2004 Chen R, Sodergren E, Weinstock GM, Gibbs RA. Dynamic building of a BAC clone tiling path for the rat genome sequencing project Genome Research. 14: 679-684. PMID 15060010 DOI: 10.1101/Gr.2171704  0.357
2004 Wu JQ, Shteynberg D, Arumugam M, Gibbs RA, Brent MR. Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. Genome Research. 14: 665-71. PMID 15060008 DOI: 10.1101/Gr.1959604  0.366
2004 Dewey C, Wu JQ, Cawley S, Alexandersson M, Gibbs R, Pachter L. Accurate identification of novel human genes through simultaneous gene prediction in human, mouse, and rat. Genome Research. 14: 661-4. PMID 15060007 DOI: 10.1101/Gr.1939804  0.304
2004 Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 428: 493-521. PMID 15057822 DOI: 10.1038/Nature02426  0.375
2003 Gunaratne PH, Wu JQ, Garcia AM, Hulyk S, Worley KC, Margolin JF, Gibbs RA. Concatenation cDNA sequencing for transcriptome analysis. Comptes Rendus Biologies. 326: 971-7. PMID 14744103 DOI: 10.1016/J.Crvi.2003.09.032  0.334
2003 Gibbs RA, Nelson DL. Human genetics. Primate shadow play. Science (New York, N.Y.). 299: 1331-3. PMID 12610290 DOI: 10.1126/Science.1082931  0.352
2003 Belmont JW, Hardenbol P, Willis TD, Yu F, Yang H, Ch'Ang LY, Huang W, Liu B, Shen Y, Tam PKH, Tsui LC, Waye MMY, Wong JTF, Zeng C, Zhang Q, ... ... Gibbs RA, et al. The international HapMap project Nature. 426: 789-796. DOI: 10.1038/Nature02168  0.356
2002 Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, ... ... Gibbs RA, et al. Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biology. 3: RESEARCH0079. PMID 12537568 DOI: 10.1186/Gb-2002-3-12-Research0079  0.351
2002 Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, ... ... Gibbs RA, et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99: 16899-903. PMID 12477932 DOI: 10.1073/Pnas.242603899  0.344
2002 Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, ... ... Gibbs RA, et al. Initial sequencing and comparative analysis of the mouse genome. Nature. 420: 520-62. PMID 12466850 DOI: 10.1038/Nature01262  0.384
2002 Rawat DS, Gibbs RA. Synthesis of 7-substituted farnesyl diphosphate analogues. Organic Letters. 4: 3027-30. PMID 12201708 DOI: 10.1021/Ol026176I  0.57
2002 Scott GBI, Steffen DL, Edgar D, Warren JT, Kovář CL, Scherer SE, Havlak PH, Gibbs RA. Loader lite: A new software tool for the ABI PRISM® 3700 DNA sequencer Biotechniques. 32: 1366-1371. PMID 12074168 DOI: 10.2144/02326Bc01  0.305
2002 Shah G, Brugada R, Gonzalez O, Czernuszewicz G, Gibbs RA, Bachinski L, Roberts R. The cloning, genomic organization and tissue expression profile of the human DLG5 gene: Correction. Bmc Genomics. 3: 14. PMID 12060488 DOI: 10.1186/1471-2164-3-14  0.305
2002 Dederich DA, Okwuonu G, Garner T, Denn A, Sutton A, Escotto M, Martindale A, Delgado O, Muzny DM, Gibbs RA, Metzker ML. Glass bead purification of plasmid template DNA for high throughput sequencing of mammalian genomes. Nucleic Acids Research. 30: e32. PMID 11917038 DOI: 10.1093/Nar/30.7.E32  0.342
2002 Shah G, Brugada R, Gonzalez O, Czernuszewicz G, Gibbs RA, Bachinski L, Roberts R. The cloning, genomic organization and tissue expression profile of the human DLG5 gene. Bmc Genomics. 3: 6. PMID 11876824 DOI: 10.1186/1471-2164-3-6  0.343
2001 Chen R, Bouck JB, Weinstock GM, Gibbs RA. Comparing vertebrate whole-genome shotgun reads to the human genome Genome Research. 11: 1807-1816. PMID 11691844 DOI: 10.1101/Gr.203601  0.37
2001 Cai WW, Chen R, Gibbs RA, Bradley A. A clone-array pooled shotgun strategy for sequencing large genomes. Genome Research. 11: 1619-23. PMID 11591638 DOI: 10.1101/Gr.198101  0.36
2001 McPherson JD, Marra M, Hillier L, Waterston RH, Chinwalla A, Wallis J, Sekhon M, Wylie K, Mardis ER, Wilson RK, Fulton R, Kucaba TA, Wagner-McPherson C, Barbazuk WB, Gregory SG, ... ... Gibbs R, et al. A physical map of the human genome. Nature. 409: 934-41. PMID 11237014 DOI: 10.1038/35057157  0.338
2001 Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Gibbs RA, et al. Initial sequencing and analysis of the human genome. Nature. 409: 860-921. PMID 11237011 DOI: 10.1038/35057062  0.358
2001 Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, Fitzhugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Gibbs RA, et al. Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) Nature. 412: 565-566. DOI: 10.1038/35087627  0.354
2000 Bouck J, McLeod MP, Worley K, Gibbs RA. The Human Transcript Database: A catalogue of full length cDNA inserts Bioinformatics. 16: 176-177. PMID 10842740 DOI: 10.1093/Bioinformatics/16.2.176  0.311
2000 Bouck JB, Metzker ML, Gibbs RA. Shotgun sample sequence comparisons between mouse and human genomes Nature Genetics. 25: 31-33. PMID 10802652 DOI: 10.1038/75563  0.355
2000 Schwartz S, Zhang Z, Frazer KA, Smit A, Riemer C, Bouck J, Gibbs R, Hardison R, Miller W. PipMaker - A web server for aligning two genomic DNA sequences Genome Research. 10: 577-586. PMID 10779500 DOI: 10.1101/Gr.10.4.577  0.352
2000 Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, ... ... Gibbs RA, et al. The genome sequence of Drosophila melanogaster. Science (New York, N.Y.). 287: 2185-95. PMID 10731132 DOI: 10.1126/Science.287.5461.2185  0.381
2000 Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Human Molecular Genetics. 8: 2425-36. PMID 10556290 DOI: 10.1093/Hmg/8.13.2425  0.357
1999 Gibbs RA. The weed paves the way Nature Genetics. 22: 219-220. PMID 10391205 DOI: 10.1038/10274  0.383
1999 Bouck J, Yu W, Gibbs R, Worley K. Comparison of gene indexing databases Trends in Genetics. 15: 159-162. PMID 10203827 DOI: 10.1016/S0168-9525(99)01709-6  0.318
1998 Timms KM, Ansari-Lari MA, Morris W, Brown SN, Gibbs RA. The genomic organization of Isopeptidase T-3 (ISOT-3), a new member of the ubiquitin specific protease family (UBP). Gene. 217: 101-6. PMID 9841226 DOI: 10.1016/S0378-1119(98)00341-2  0.333
1998 Bouck J, Miller W, Gorrell JH, Muzny D, Gibbs RA. Analysis of the quality and utility of random shotgun sequencing at low redundancies. Genome Research. 8: 1074-84. PMID 9799794 DOI: 10.1101/Gr.8.10.1074  0.347
1998 Timms KM, Huckett LE, Belmont JW, Shapira SK, Gibbs RA. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Human Mutation. 11: 121-6. PMID 9482575 DOI: 10.1002/(Sici)1098-1004(1998)11:2<121::Aid-Humu4>3.0.Co;2-M  0.336
1998 Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Human Molecular Genetics. 6: 1595-603. PMID 9285799 DOI: 10.1093/Hmg/6.9.1595  0.352
1997 Gibbs RA. Hares and tortoises in the race to sequence the human genome: expectations and realities. Trends in Genetics : Tig. 13: 381-3. PMID 9351336 DOI: 10.1016/S0168-9525(97)01267-5  0.35
1997 Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Research. 7: 642-8. PMID 9199937 DOI: 10.1101/Gr.7.6.642  0.324
1997 Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA. Molecular and phenotypic variation in patients with severe Hunter syndrome. Human Molecular Genetics. 6: 479-86. PMID 9147653 DOI: 10.1093/Hmg/6.3.479  0.311
1997 Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA. Large-scale concatenation cDNA sequencing. Genome Research. 7: 353-8. PMID 9110174 DOI: 10.1101/Gr.7.4.353  0.338
1997 Oeltjen JC, Malley TM, Muzny DM, Miller W, Gibbs RA, Belmont JW. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains Genome Research. 7: 315-329. PMID 9110171 DOI: 10.1101/Gr.7.4.315  0.362
1997 Ansari-Lari MA, Shen Y, Muzny DM, Lee W, Gibbs RA. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Research. 7: 268-80. PMID 9074930 DOI: 10.1101/Gr.7.3.268  0.367
1997 Andersson B, Lu J, Shen Y, Wentland MA, Gibbs RA. Simultaneous shotgun sequencing of multiple cDNA clones. Dna Sequence : the Journal of Dna Sequencing and Mapping. 7: 63-70. PMID 9063643 DOI: 10.3109/10425179709020153  0.331
1997 Boguski M, Chakravarti A, Gibbs R, Green E, Myers RM. The end of the beginning: the race to begin human genome sequencing. Genome Research. 6: 771-2. PMID 8889545 DOI: 10.1101/Gr.6.9.771  0.346
1996 Jones SN, Ansari-Lari MA, Hancock AR, Jones WJ, Gibbs RA, Donehower LA, Bradley A. Genomic organization of the mouse double minute 2 gene Gene. 175: 209-213. PMID 8917101 DOI: 10.1016/0378-1119(96)00151-5  0.342
1996 Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Human Molecular Genetics. 5: 899-912. PMID 8817324 DOI: 10.1093/Hmg/5.7.899  0.358
1996 Ansari-Lari MA, Muzny DM, Lu J, Lu F, Lilley CE, Spanos S, Malley T, Gibbs RA. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 Genome Research. 6: 314-326. PMID 8723724 DOI: 10.1101/Gr.6.4.314  0.364
1996 Gu Y, Shen Y, Gibbs RA, Nelson DL. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genetics. 13: 109-13. PMID 8673086 DOI: 10.1038/Ng0596-109  0.303
1996 Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genetics. 12: 288-97. PMID 8589720 DOI: 10.1038/Ng0396-288  0.311
1995 Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL, Gibbs RA. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Research. 5: 71-8. PMID 8717057 DOI: 10.1101/Gr.5.1.71  0.363
1995 Andersson B, Lu F, Muzny DM, Warren ST, Gibbs RA. Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from xq28 Mitochondrial Dna. 5: 219-223. PMID 7626781 DOI: 10.3109/10425179509030969  0.334
1995 Gibbs RA. Pressing ahead with human genome sequencing Nature Genetics. 11: 121-125. PMID 7550337 DOI: 10.1038/Ng1095-121  0.353
1995 Liotta LJ, Gibbs RA, Taylor SD, Benkovic PA, Benkovic SJ. Antibody-Catalyzed Rearrangement of a Peptide Bond: Mechanistic and Kinetic Investigations Journal of the American Chemical Society. 117: 4729-4741. DOI: 10.1021/Ja00122A001  0.721
1995 Liotta LJ, Gibbs RA, Taylor SD, Benkovic PA, Benkovic SJ. Antibody-catalyzed rearrangement of a peptide bond: Mechanistic and kinetic investigations Journal of the American Chemical Society. 117: X-4737.  0.687
1995 Liotta LJ, Gibbs RA, Taylor SD, Benkovic PA, Benkovic SJ. Antibody-catalyzed rearrangement of a peptide bond: Mechanistic and kinetic investigations Journal of the American Chemical Society. 117: X-4737.  0.687
1994 Andersson B, Povinelli CM, Wentland MA, Shen Y, Muzny DM, Gibbs RA. Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing. Analytical Biochemistry. 218: 300-8. PMID 8074284 DOI: 10.1006/Abio.1994.1182  0.304
1994 Burgess K, Gibbs RA, Metzker ML, Raghavachari R. Synthesis of an oxyamide linked nucleotide dimer and incorporation into antisense oligonucleotide sequences Journal of the Chemical Society, Chemical Communications. 915-916. DOI: 10.1039/C39940000915  0.306
1993 Povinelli CM, Gibbs RA. Large-scale sequencing library production: an adaptor-based strategy. Analytical Biochemistry. 210: 16-26. PMID 8489013 DOI: 10.1006/Abio.1993.1144  0.305
1993 Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Human Molecular Genetics. 2: 1147-53. PMID 8401496 DOI: 10.1093/Hmg/2.8.1147  0.34
1993 Andersson B, Ying JH, Lewis DE, Gibbs RA. Rapid characterization of HIV-1 sequence diversity using denaturing gradient gel electrophoresis and direct automated DNA sequencing of PCR products. Pcr Methods and Applications. 2: 293-300. PMID 8324502 DOI: 10.1101/Gr.2.4.293  0.318
1993 Zu Z, Yu Y, Gibbs RA, Caskey CT, Hsie AW. Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutation Research. 288: 237-48. PMID 7688083 DOI: 10.1016/0027-5107(93)90090-3  0.334
1992 Yu Y‐, Xu Z, Gibbs RA, Hsie AW. Polymerase chain reaction-based comprehensive procedure for the analysis of the mutation spectrum at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells. Environmental and Molecular Mutagenesis. 19: 267-273. PMID 1600952 DOI: 10.1002/Em.2850190402  0.31
1992 Gibbs RA, Taylor S, Benkovic SJ. Antibody-catalyzed rearrangement of the peptide bond. Science (New York, N.Y.). 258: 803-5. PMID 1439788 DOI: 10.1126/Science.1439788  0.423
1992 Edwards MC, Gibbs RA. A human dimorphism resulting from loss of an Alu Genomics. 14: 590-597. PMID 1330888 DOI: 10.1016/S0888-7543(05)80156-9  0.363
1992 Pizzuti A, Pieretti M, Fenwick RG, Gibbs RA, Caskey CT. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 13: 594-600. PMID 1322353 DOI: 10.1016/0888-7543(92)90129-G  0.332
1992 Gibbs RA, Benkovic PA, Janda KD, Lerner RA, Benkovic SJ. Substituent effects of an antibody-catalyzed hydrolysis of phenyl esters: further evidence for an acyl-antibody intermediate Journal of the American Chemical Society. 114: 3528-3534. DOI: 10.1021/Ja00035A057  0.414
1991 Gibbs RA, Posner BA, Filpula DR, Dodd SW, Finkelman MA, Lee TK, Wroble M, Whitlow M, Benkovic SJ. Construction and characterization of a single-chain catalytic antibody. Proceedings of the National Academy of Sciences of the United States of America. 88: 4001-4. PMID 2023948 DOI: 10.1073/Pnas.88.9.4001  0.359
1991 Zheng H, Hasty P, Brenneman MA, Grompe M, Gibbs RA, Wilson JH, Bradley A. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proceedings of the National Academy of Sciences of the United States of America. 88: 8067-71. PMID 1896453 DOI: 10.1073/Pnas.88.18.8067  0.303
1991 Gordon RB, Dawson PA, Sculley DG, Emmerson BT, Caskey CT, Gibbs RA. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 108: 299-304. PMID 1840549 DOI: 10.1016/0378-1119(91)90450-P  0.339
1989 Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proceedings of the National Academy of Sciences of the United States of America. 86: 1919-23. PMID 2928313 DOI: 10.1073/Pnas.86.6.1919  0.325
1989 Okamura WH, Aurrecoechea JM, Gibbs RA, Norman AW. Studies of vitamin D (calciferol) and its analogs. 35. Synthesis and biological activity of 9,11-dehydrovitamin D3 analogs: stereoselective preparation of 6.beta.-vitamin D vinylallenes and a concise enynol synthesis for preparing the A-ring The Journal of Organic Chemistry. 54: 4072-4083. DOI: 10.1021/Jo00278A018  0.493
1989 Gibbs RA, Bartels K, Lee RWK, Okamura WH. An enantioselective central-axial-central chiral element transfer process leading to a concise synthesis of (+)-sterpurene: intramolecular Diels-Alder reactions of vinylallene sulfoxides Journal of the American Chemical Society. 111: 3717-3725. DOI: 10.1021/Ja00192A033  0.506
1989 GIBBS RA, BARTELS K, LEE RWK, OKAMURA WH. ChemInform Abstract: An Enantioselective Central-Axial-Central Chiral Element Transfer Process Leading to a Concise Synthesis of (+)-Sterpurene: Intramolecular Diels-Alder Reactions of Vinylallene Sulfoxides. Cheminform. 20. DOI: 10.1002/chin.198936079  0.434
1988 Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Research. 16: 11141-56. PMID 3205741 DOI: 10.1093/Nar/16.23.11141  0.351
1988 Barrack SA, Gibbs RA, Okamura WH. Studies of vitamin D (calciferol) and its analogs. 34. Potential inhibitors of vitamin D metabolism: an oxa analog of vitamin D The Journal of Organic Chemistry. 53: 1790-1796. DOI: 10.1021/Jo00243A035  0.486
1988 Gibbs RA, Okamura WH. A short enantioselective synthesis of (+)-sterpurene: complete intramolecular transfer of central to axial to central chiral elements Journal of the American Chemical Society. 110: 4062-4063. DOI: 10.1021/Ja00220A069  0.498
1988 BARRACK SA, GIBBS RA, OKAMURA WH. ChemInform Abstract: Studies of Vitamin D (Calciferol) and Its Analogues. Part 34. Potential Inhibitors of Vitamin D Metabolism: An Oxa Analogue of Vitamin D. Cheminform. 19. DOI: 10.1002/chin.198840285  0.417
1988 GIBBS RA, OKAMURA WH. ChemInform Abstract: A Short Enantioselective Synthesis of (+)-Sterpurene: Complete Intramolecular Transfer of Central to Axial to Central Chiral Elements. Cheminform. 19. DOI: 10.1002/chin.198839272  0.436
1988 GIBBS RA, OKAMURA WH. ChemInform Abstract: Synthesis of 3-Deoxy-1α,25-dihydroxy-9,11-dehydrovitamin D3 (II). Selective Formation of 6β-Vitamin D Vinylallenes and Their Thermal (1,5)-Sigmatropic Hydrogen Shift. Cheminform. 19. DOI: 10.1002/chin.198820292  0.421
1987 Veres G, Gibbs RA, Scherer SE, Caskey CT. The molecular basis of the sparse fur mouse mutation. Science (New York, N.Y.). 237: 415-7. PMID 3603027 DOI: 10.1126/Science.3603027  0.341
1987 Gibbs RA, Okamura WH. Synthesis of 3-deoxy-1α,25-dihydroxy-9,11-dehydrovitamin D3: Selective formation of 6β-vitamin D vinylallenes and their thermal [1,5]-sigmatropic hydrogen shift Tetrahedron Letters. 28: 6021-6024. DOI: 10.1016/S0040-4039(00)96853-9  0.43
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