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

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

Year Citation  Score
2018 Chen C, Meng Q, Xia Y, Ding C, Wang L, Dai R, Cheng L, Gunaratne P, Gibbs RA, Min S, Coarfa C, Reid JG, Zhang C, Jiao C, Jiang Y, et al. The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders. Science Translational Medicine. PMID 30545964 DOI: 10.1126/scitranslmed.aat8178  0.32
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  0.32
2017 Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Molecular Genetics and Metabolism Reports. 12: 57-61. PMID 28626639 DOI: 10.1016/j.ymgmr.2017.06.002  0.32
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  0.32
2017 Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, et al. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harbor Molecular Case Studies. 3: a000984. PMID 28299356 DOI: 10.1101/mcs.a000984  0.32
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
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  0.32
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  0.76
2016 Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, ... ... Gibbs RA, et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. American Journal of Human Genetics. PMID 27640307 DOI: 10.1016/j.ajhg.2016.08.007  0.32
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  0.32
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  0.32
2016 McGuire A, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, et al. The ethics of conducting molecular autopsies in the cases of sudden death in the young. Genome Research. PMID 27412853 DOI: 10.1101/gr.192401.115  0.32
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  0.76
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  0.76
2016 Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man TK, Plon SE, Gibbs RA, Lau CC. SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code For Biology and Medicine. 11: 8. PMID 27330550 DOI: 10.1186/s13029-016-0051-0  0.32
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  0.32
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  0.32
2016 Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, ... ... Gibbs RA, et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. Jama Neurology. PMID 27159400 DOI: 10.1001/jamaneurol.2016.0363  0.32
2016 Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern. Human Mutation. PMID 27159028 DOI: 10.1002/humu.23012  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2016 Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, ... ... Gibbs RA, et al. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. The Journal of Clinical Investigation. PMID 26752647 DOI: 10.1172/JCI84457  0.32
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  0.32
2015 Jennings BC, Danowitz AM, Wang YC, Gibbs RA, Distefano MD, Fierke CA. Analogs of farnesyl diphosphate alter CaaX substrate specificity and reactions rates of protein farnesyltransferase. Bioorganic & Medicinal Chemistry Letters. PMID 26803203 DOI: 10.1016/j.bmcl.2015.12.079  1
2015 Campbell IM, Gambin T, Jhanghiani S, Grove ML, Veeraraghavan N, Muzny D, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Human Mutation. PMID 26670213 DOI: 10.1002/humu.22944  0.32
2015 Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, ... ... Gibbs RA, et al. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circulation. Cardiovascular Genetics. PMID 26658788 DOI: 10.1161/CIRCGENETICS.115.001215  0.32
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  0.32
2015 Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, ... ... Gibbs RA, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26633545 DOI: 10.1038/gim.2015.142  0.32
2015 Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, et al. Whole-Exome Sequencing in Familial Parkinson Disease. Jama Neurology. 1-8. PMID 26595808 DOI: 10.1001/jamaneurol.2015.3266  0.32
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  0.32
2015 McCullough LB, Slashinski MJ, McGuire AL, Street RL, Eng CM, Gibbs RA, Parsons DW, Plon SE. Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatric Blood & Cancer. PMID 26505993 DOI: 10.1002/pbc.25815  0.32
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  0.32
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  0.32
2015 Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny D, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs R, Jefferies JL. Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction. Circulation. Cardiovascular Genetics. PMID 26025024 DOI: 10.1161/CIRCGENETICS.115.001026  0.32
2015 Zhao F, Darling JE, Gibbs RA, Hougland JL. A new class of ghrelin O-acyltransferase inhibitors incorporating triazole-linked lipid mimetic groups. Bioorganic & Medicinal Chemistry Letters. 25: 2800-3. PMID 26009163 DOI: 10.1016/j.bmcl.2015.05.009  1
2015 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  0.32
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  0.32
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  0.32
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  0.32
2015 Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics. Part A. 167: 1309-14. PMID 25846959 DOI: 10.1002/ajmg.a.36899  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2015 Ross MC, Muzny DM, McCormick JB, Gibbs RA, Fisher-Hoch SP, Petrosino JF. 16S gut community of the Cameron County Hispanic Cohort. Microbiome. 3: 7. PMID 25763184 DOI: 10.1186/s40168-015-0072-y  0.32
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  0.32
2015 Darling JE, Zhao F, Loftus RJ, Patton LM, Gibbs RA, Hougland JL. Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition. Biochemistry. 54: 1100-10. PMID 25562443 DOI: 10.1021/bi5010359  1
2015 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  0.32
2015 Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample Genome Medicine. 7. DOI: 10.1186/s13073-015-0171-1  0.32
2015 Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Gibbs RA, et al. Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment Obstetrical and Gynecological Survey. 70: 164-167. DOI: 10.1097/01.ogx.0000462915.64193.1b  0.32
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, CobanAkdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Gibbs RA, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.06.009  0.32
2014 Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, ... ... Gibbs RA, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. American Journal of Human Genetics. 95: 579-83. PMID 25439098 DOI: 10.1016/j.ajhg.2014.09.014  0.32
2014 . Integrated genomic characterization of papillary thyroid carcinoma. Cell. 159: 676-90. PMID 25417114 DOI: 10.1016/j.cell.2014.09.050  0.32
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  0.32
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  0.32
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  0.32
2014 Pickering CR, Zhou JH, Lee JJ, Drummond JA, Peng SA, Saade RE, Tsai KY, Curry JL, Tetzlaff MT, Lai SY, Yu J, Muzny DM, Doddapaneni H, Shinbrot E, Covington KR, ... ... Gibbs RA, et al. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 20: 6582-92. PMID 25303977 DOI: 10.1158/1078-0432.CCR-14-1768  0.32
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  0.32
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  0.32
2014 Shinbrot E, Henninger EE, Weinhold N, Covington KR, Göksenin AY, Schultz N, Chao H, Doddapaneni H, Muzny DM, Gibbs RA, Sander C, Pursell ZF, Wheeler DA. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Research. 24: 1740-50. PMID 25228659 DOI: 10.1101/gr.174789.114  0.32
2014 Pereira S, Gibbs RA, McGuire AL. Open access data sharing in genomic research. Genes. 5: 739-47. PMID 25178093 DOI: 10.3390/genes5030739  0.32
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  0.32
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  0.32
2014 Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, ... Gibbs RA, et al. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. Journal of Clinical Immunology. 34: 871-90. PMID 25073507 DOI: 10.1007/s10875-014-0074-8  0.32
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  0.32
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  0.32
2014 Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, ... ... Gibbs RA, et al. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clinical and Experimental Immunology. 178: 459-69. PMID 25046553 DOI: 10.1111/cei.12421  0.32
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  0.32
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  0.32
2014 Bis JC, DeStefano A, Liu X, Brody JA, Choi SH, Verhaaren BF, Debette S, Ikram MA, Shahar E, Butler KR, Gottesman RF, Muzny D, Kovar CL, Psaty BM, Hofman A, ... ... Gibbs RA, et al. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. Plos One. 9: e99798. PMID 24959832 DOI: 10.1371/journal.pone.0099798  0.32
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  0.32
2014 Magnani JW, Brody JA, Prins BP, Arking DE, Lin H, Yin X, Liu CT, Morrison AC, Zhang F, Spector TD, Alonso A, Bis JC, Heckbert SR, Lumley T, Sitlani CM, ... ... Gibbs RA, et al. Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circulation. Cardiovascular Genetics. 7: 365-73. PMID 24951663 DOI: 10.1161/CIRCGENETICS.113.000098  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2014 Jiang Y, Xie M, Chen W, Talbot R, Maddox JF, Faraut T, Wu C, Muzny DM, Li Y, Zhang W, Stanton JA, Brauning R, Barris WC, Hourlier T, Aken BL, ... ... Gibbs RA, et al. The sheep genome illuminates biology of the rumen and lipid metabolism. Science (New York, N.Y.). 344: 1168-73. PMID 24904168 DOI: 10.1126/science.1252806  0.32
2014 Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. Bmc Medical Genetics. 15: 64. PMID 24898207 DOI: 10.1186/1471-2350-15-64  0.32
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  0.32
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  0.32
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  0.32
2014 Bellott DW, Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Cho TJ, Koutseva N, Zaghlul S, Graves T, Rock S, Kremitzki C, Fulton RS, Dugan S, Ding Y, Morton D, ... ... Gibbs RA, et al. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 508: 494-9. PMID 24759411 DOI: 10.1038/nature13206  0.32
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  0.32
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  0.32
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  0.32
2014 Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... ... Gibbs RA, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/gim.2014.22  0.32
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  0.32
2014 Moura AE, Janse van Rensburg C, Pilot M, Tehrani A, Best PB, Thornton M, Plön S, de Bruyn PJ, Worley KC, Gibbs RA, Dahlheim ME, Hoelzel AR. Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum. Molecular Biology and Evolution. 31: 1121-31. PMID 24497033 DOI: 10.1093/molbev/msu058  0.32
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  0.32
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  0.32
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  0.32
2014 Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Gibbs RA, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/j.ajhg.2014.01.002  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2014 Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin L, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge M, Lawson K, Pehlivan D, Okamoto Y, Withers M, Mancias P, ... ... Gibbs R, et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Cell Reports. DOI: 10.1016/j.celrep.2015.07.023  0.32
2014 Campeau PM, Hennekam RC, Aftimos S, Banka S, Begleiter ML, Bilo L, Blair E, Burrage LC, Liu DS, De Bie I, Félix TM, Giltay JC, Gibbs RA, Giuliano F, Hadzsiev K, et al. DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166: 327-332. DOI: 10.1002/ajmg.c.31412  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2013 Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Molecular Psychiatry. 18: 1315-23. PMID 23979605 DOI: 10.1038/mp.2013.102  0.32
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  0.32
2013 Murphy SJ, Hart SN, Lima JF, Kipp BR, Klebig M, Winters JL, Szabo C, Zhang L, Eckloff BW, Petersen GM, Scherer SE, Gibbs RA, McWilliams RR, Vasmatzis G, Couch FJ. Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor. Gastroenterology. 145: 1098-1109.e1. PMID 23912084 DOI: 10.1053/j.gastro.2013.07.049  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2013 Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2333-7. PMID 23674381 DOI: 10.1002/jbmr.1983  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2013 Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, et al. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 24: 2253-9. PMID 23443412 DOI: 10.1007/s00198-013-2290-0  0.32
2013 Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 1523-30. PMID 23408678 DOI: 10.1002/jbmr.1891  0.32
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  0.32
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  0.32
2013 Niu T, Smith DL, Yang Z, Gao S, Yin T, Jiang ZH, You M, Gibbs RA, Petrosino JF, Hu M. Bioactivity and bioavailability of ginsenosides are dependent on the glycosidase activities of the A/J mouse intestinal microbiome defined by pyrosequencing Pharmaceutical Research. 30: 836-846. PMID 23254888 DOI: 10.1007/s11095-012-0925-z  0.32
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  0.32
2013 Rogers J, Raveendran M, Fawcett GL, Fox AS, Shelton SE, Oler JA, Cheverud J, Muzny DM, Gibbs RA, Davidson RJ, Kalin NH. CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Molecular Psychiatry. 18: 700-7. PMID 23147386 DOI: 10.1038/mp.2012.152  0.32
2013 Creighton CJ, Morgan M, Gunaratne PH, Wheeler DA, Gibbs RA, Robertson G, Chu A, Beroukhim R, Cibulskis K, Signoretti S, Vandin F, Wu HT, Raphael BJ, Verhaak RGW, Tamboli P, et al. Comprehensivemolecular characterization of clear cell renal cell carcinoma Nature. 499: 43-49. DOI: 10.1038/nature12222  0.32
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  0.32
2012 Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 491: 56-65. PMID 23128226 DOI: 10.1038/nature11632  0.32
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  0.32
2012 Huang W, Richards S, Carbone MA, Zhu D, Anholt RR, Ayroles JF, Duncan L, Jordan KW, Lawrence F, Magwire MM, Warner CB, Blankenburg K, Han Y, Javaid M, Jayaseelan J, ... ... Gibbs RA, et al. Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proceedings of the National Academy of Sciences of the United States of America. 109: 15553-9. PMID 22949659 DOI: 10.1073/pnas.1213423109  0.32
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  0.32
2012 Placzek AT, Hougland JL, Gibbs RA. Synthesis of frame-shifted farnesyl diphosphate analogs. Organic Letters. 14: 4038-41. PMID 22857735 DOI: 10.1021/ol300683r  1
2012 Muzny DM, Bainbridge MN, Chang K, Dinh HH, Drummond JA, Fowler G, Kovar CL, Lewis LR, Morgan MB, Newsham IF, Reid JG, Santibanez J, Shinbrot E, Trevino LR, Wu YQ, ... ... Gibbs RA, et al. Comprehensive molecular characterization of human colon and rectal cancer Nature. 487: 330-337. PMID 22810696 DOI: 10.1038/nature11252  0.32
2012 Bergman JA, Hahne K, Song J, Hrycyna CA, Gibbs RA. S-Farnesyl-Thiopropionic Acid (FTPA) Triazoles as Potent Inhibitors of Isoprenylcysteine Carboxyl Methyltransferase. Acs Medicinal Chemistry Letters. 3: 15-19. PMID 22754607 DOI: 10.1021/ml200106d  1
2012 Lee E, Iskow R, Yang L, Gokcumen O, Haseley P, Luquette LJ, Lohr JG, Harris CC, Ding L, Wilson RK, Wheeler DA, Gibbs RA, Kucherlapati R, Lee C, Kharchenko PV, et al. Landscape of somatic retrotransposition in human cancers. Science (New York, N.Y.). 337: 967-71. PMID 22745252 DOI: 10.1126/science.1222077  0.32
2012 . Butterfly genome reveals promiscuous exchange of mimicry adaptations among species. Nature. 487: 94-8. PMID 22722851 DOI: 10.1038/nature11041  0.32
2012 Ward DV, Gevers D, Giannoukos G, Earl AM, Methé BA, Sodergren E, Feldgarden M, Ciulla DM, Tabbaa D, Arze C, Appelbaum E, Aird L, Anderson S, Ayvaz T, Belter E, ... ... Gibbs RA, et al. Evaluation of 16s rDNA-based community profiling for human microbiome research Plos One. 7. PMID 22720093 DOI: 10.1371/journal.pone.0039315  0.32
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  0.32
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  0.32
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  0.32
2012 Lotta LA, Wu HM, Mackie IJ, Noris M, Veyradier A, Scully MA, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Garagiola I, et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 120: 440-8. PMID 22529288 DOI: 10.1182/blood-2012-01-403113  0.32
2012 Gibbs RA, Rogers J. Genomics: Gorilla gorilla gorilla Nature. 483: 164-165. PMID 22398552 DOI: 10.1038/483164a  0.32
2012 Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, Fulton RS, Dugan S, Ding Y, Buhay CJ, Kremitzki C, Wang Q, Shen H, Holder M, Villasana D, Nazareth LV, ... ... Gibbs RA, et al. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 483: 82-6. PMID 22367542 DOI: 10.1038/nature10843  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2012 Majmudar JD, Hodges-Loaiza HB, Hahne K, Donelson JL, Song J, Shrestha L, Harrison ML, Hrycyna CA, Gibbs RA. Amide-modified prenylcysteine based Icmt inhibitors: Structure-activity relationships, kinetic analysis and cellular characterization. Bioorganic & Medicinal Chemistry. 20: 283-95. PMID 22142613 DOI: 10.1016/j.bmc.2011.10.087  1
2012 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  0.32
2012 Majmudar JD, Morrison-Logue A, Song J, Hrycyna CA, Gibbs RA. Identification of a novel nanomolar inhibitor of hIcmt via a carboxylate replacement approach Medchemcomm. 3: 1125-1137. DOI: 10.1039/c2md20108a  1
2012 Richards S, Muzny DM, Civitello AB, Lu F, Gibbs RA. Sequence Map Gaps and Directed Reverse Sequencing for the Completion of Large Sequencing Projects Automated Dna Sequencing and Analysis. 191-198. DOI: 10.1016/B978-0-08-092639-1.50032-0  0.32
2012 Muzny DM, Richards S, Shen Y, Gibbs RA. PCR Based Strategies for Gap Closure in Large-scale Sequencing Projects Automated Dna Sequencing and Analysis. 182-190. DOI: 10.1016/B978-0-08-092639-1.50031-9  0.32
2012 Worley KC, Gibbs RA. Sequencing the Bovine Genome Bovine Genomics. 109-122. DOI: 10.1002/9781118301739.ch9  0.32
2012 Dandara C, Adebamowo C, de Vries J, Dove ES, Fisher E, Gibbs RA, Hotez PJ, Kickbusch I, Knoppers BM, Masellis M, Oestergaard MZ, Pang T, Rotimi CN. An idea whose time has come? An African foresight observatory on genomics medicine and data-intensive global science Current Pharmacogenomics and Personalized Medicine. 10: 7-15.  0.32
2011 Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Molecular Vision. 17: 3529-40. PMID 22219648  0.32
2011 Majmudar JD, Gibbs RA. Pericyclic prenylation: Peptide modification through a claisen rearrangement Chembiochem. 12: 2723-2726. PMID 22114066 DOI: 10.1002/cbic.201100612  1
2011 Xi R, Hadjipanayis AG, Luquette LJ, Kim TM, Lee E, Zhang J, Johnson MD, Muzny DM, Wheeler DA, Gibbs RA, Kucherlapati R, Park PJ. Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proceedings of the National Academy of Sciences of the United States of America. 108: E1128-36. PMID 22065754 DOI: 10.1073/pnas.1110574108  0.32
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  0.32
2011 Wong ES, Papenfuss AT, Heger A, Hsu AL, Ponting CP, Miller RD, Fenelon JC, Renfree MB, Gibbs RA, Belov K. Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby. Bmc Genomics. 12: 420. PMID 21854594 DOI: 10.1186/1471-2164-12-420  0.32
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  0.32
2011 Butte NF, Voruganti VS, Cole SA, Haack K, Comuzzie AG, Muzny DM, Wheeler DA, Chang K, Hawes A, Gibbs RA. Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children. Physiological Genomics. 43: 1029-37. PMID 21771880 DOI: 10.1152/physiolgenomics.00019.2011  0.32
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  0.32
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  0.32
2011 Placzek AT, Gibbs RA. New synthetic methodology for the construction of 7-substituted farnesyl diphosphate analogs. Organic Letters. 13: 3576-9. PMID 21699139 DOI: 10.1021/ol201069x  1
2011 Li D, Tanaka M, Brunicardi FC, Fisher WE, Gibbs RA, Gingras MC. Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 117: 2863-72. PMID 21692047 DOI: 10.1002/cncr.25858  0.32
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  0.32
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  0.32
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  0.32
2011 Sun T, Aceto N, Meerbrey KL, Kessler JD, Zhou C, Migliaccio I, Nguyen DX, Pavlova NN, Botero M, Huang J, Bernardi RJ, Schmitt E, Hu G, Li MZ, Dephoure N, ... ... Gibbs RA, et al. Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 144: 703-18. PMID 21376233 DOI: 10.1016/j.cell.2011.02.003  0.32
2011 Harring TR, Guiteau JJ, Nguyen NT, Cotton RT, Gingras MC, Wheeler DA, O'Mahony CA, Gibbs RA, Brunicardi FC, Goss JA. Building a comprehensive genomic program for hepatocellular carcinoma. World Journal of Surgery. 35: 1746-50. PMID 21225260 DOI: 10.1007/s00268-010-0954-x  0.32
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  0.32
2011 Placzek AT, Krzysiak AJ, Gibbs RA. Chemical Probes of Protein Prenylation Enzymes. 30: 91-127. DOI: 10.1016/B978-0-12-415922-8.00005-7  1
2010 Sane KM, Mynderse M, Lalonde DT, Dean IS, Wojtkowiak JW, Fouad F, Borch RF, Reiners JJ, Gibbs RA, Mattingly RR. A novel geranylgeranyl transferase inhibitor in combination with lovastatin inhibits proliferation and induces autophagy in STS-26T MPNST cells. The Journal of Pharmacology and Experimental Therapeutics. 333: 23-33. PMID 20086055 DOI: 10.1124/jpet.109.160192  1
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  1
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  0.6
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  1
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  1
2009 Wojtkowiak JW, Gibbs RA, Mattingly RR. Working together: Farnesyl transferase inhibitors and statins block protein prenylation Molecular and Cellular Pharmacology. 1: 1-6. DOI: 10.4255/mcpharmacol.09.01  1
2008 Henneman L, van Cruchten AG, Denis SW, Amolins MW, Placzek AT, Gibbs RA, Kulik W, Waterham HR. Detection of nonsterol isoprenoids by HPLC-MS/MS. Analytical Biochemistry. 383: 18-24. PMID 18782552 DOI: 10.1016/j.ab.2008.08.023  1
2008 Maynor M, Scott SA, Rickert EL, Gibbs RA. Synthesis and evaluation of 3- and 7-substituted geranylgeranyl pyrophosphate analogs. Bioorganic & Medicinal Chemistry Letters. 18: 1889-92. PMID 18321704 DOI: 10.1016/j.bmcl.2008.02.014  1
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  1
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  1
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  1
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  1
2006 Trivedi R, De SK, Gibbs RA. A convenient one-pot synthesis of 2-substituted benzimidazoles Journal of Molecular Catalysis a: Chemical. 245: 8-11. DOI: 10.1016/j.molcata.2005.09.025  1
2005 Gibbs RA. Trp modification signals a quorum Nature Chemical Biology. 1: 7-8. PMID 16407984 DOI: 10.1038/nchembio0605-7  1
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  1
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  1
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  1
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  1
2005 De SK, Gibbs RA. Praseodymium trifluoromethylsulfonate as an efficient and recyclable catalyst for the synthesis of α-aminonitriles Synthetic Communications. 35: 961-966. DOI: 10.1081/SCC-200051702  1
2005 De SK, Gibbs RA. Ruthenium(III) chloride-catalyzed ring opening of epoxides with aromatic amines Synthetic Communications. 35: 2675-2680. DOI: 10.1080/00397910500214284  1
2005 De SK, Gibbs RA. Scandium(III) triflate as an efficient and reusable catalyst for synthesis of 3,4-dihydropyrimidin-2(1H)-ones Synthetic Communications. 35: 2645-2651. DOI: 10.1080/00397910500213781  1
2005 De SK, Gibbs RA. Ruthenium(III) chloride-catalyzed one-pot synthesis of 3,4- dihydropyrimidin-2-(1H)-ones under solvent-free conditions Synthesis. 1748-1750. DOI: 10.1055/s-2005-869899  1
2005 De SK, Gibbs RA. An efficient and practical procedure for the synthesis of 4-substituted coumarins Synthesis. 1231-1233. DOI: 10.1055/s-2005-865282  1
2005 Placzek AT, Donelson JL, Trivedi R, Gibbs RA, De SK. Scandium triflate as an efficient and useful catalyst for the synthesis of β-amino alcohols by regioselective ring opening of epoxides with amines under solvent-free conditions Tetrahedron Letters. 46: 9029-9034. DOI: 10.1016/j.tetlet.2005.10.106  1
2005 De SK, Gibbs RA. Bismuth(III) chloride-catalyzed direct deoxygenative allylation of substituted benzylic alcohols with allyltrimethylsilane Tetrahedron Letters. 46: 8345-8350. DOI: 10.1016/j.tetlet.2005.09.161  1
2005 Royer L, De SK, Gibbs RA. Iodine as a novel and efficient reagent for the synthesis of α-aminonitriles by a three-component condensation of carbonyl compounds, amines, and trimethylsilyl cyanide Tetrahedron Letters. 46: 4595-4597. DOI: 10.1016/j.tetlet.2005.05.005  1
2005 De SK, Gibbs RA. Scandium(III) triflate as an efficient and reusable catalyst for synthesis of 1,5-benzodiazepine derivatives Tetrahedron Letters. 46: 1811-1813. DOI: 10.1016/j.tetlet.2005.01.113  1
2005 De SK, Gibbs RA. A mild and efficient one-step synthesis of quinolines Tetrahedron Letters. 46: 1647-1649. DOI: 10.1016/j.tetlet.2005.01.075  1
2005 De SK, Gibbs RA. Vanadyl triflate as an efficient and recyclable catalyst for trimethylsilyl cyanide addition to carbonyl compounds Journal of Molecular Catalysis a: Chemical. 232: 123-125. DOI: 10.1016/j.molcata.2005.01.034  1
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  1
2004 De SK, Gibbs RA. Ruthenium(III) chloride-catalyzed chemoselective synthesis of acetals from aldehydes Tetrahedron Letters. 45: 8141-8144. DOI: 10.1016/j.tetlet.2004.09.060  1
2004 De SK, Gibbs RA. Bismuth trichloride catalyzed synthesis of α-aminonitriles Tetrahedron Letters. 45: 7407-7408. DOI: 10.1016/j.tetlet.2004.08.071  1
2003 An Y, Shao Y, Alory C, Matteson J, Sakisaka T, Chen W, Gibbs RA, Wilson IA, Balch WE. Geranylgeranyl switching regulates GDI-Rab GTPase recycling. Structure (London, England : 1993). 11: 347-57. PMID 12623022 DOI: 10.1016/S0969-2126(03)00034-0  1
2002 Amin R, Chen HQ, Tannous M, Gibbs R, Kowluru A. Inhibition of glucose- and calcium-induced insulin secretion from βTC3 cells by novel inhibitors of protein isoprenylation Journal of Pharmacology and Experimental Therapeutics. 303: 82-88. PMID 12235236 DOI: 10.1124/jpet.102.036160  1
2002 Rawat DS, Gibbs RA. Synthesis of 7-substituted farnesyl diphosphate analogues. Organic Letters. 4: 3027-30. PMID 12201708 DOI: 10.1021/ol026176i  1
2002 Zhou C, Shao Y, Gibbs RA. Aromatic farnesyl diphosphate analogues: Vinyl triflate-mediated synthesis and preliminary enzymatic evaluation Bioorganic and Medicinal Chemistry Letters. 12: 1417-1420. PMID 11992789 DOI: 10.1016/S0960-894X(02)00187-7  1
2002 Mu Y, Eubanks LM, Poulter CD, Gibbs RA. Coupling of isoprenoid triflates with organoboron nucleophiles: synthesis and biological evaluation of geranylgeranyl diphosphate analogues. Bioorganic & Medicinal Chemistry. 10: 1207-19. PMID 11886785 DOI: 10.1016/S0968-0896(01)00390-X  1
2001 Zahn TJ, Whitney J, Weinbaum C, Gibbs RA. Synthesis and evaluation of GGPP geometric isomers: divergent substrate specificities of FTase and GGTase I. Bioorganic & Medicinal Chemistry Letters. 11: 1605-8. PMID 11412990 DOI: 10.1016/S0960-894X(01)00292-X  1
2000 Xie H, Shao Y, Becker JM, Naider F, Gibbs RA. Synthesis and biological evaluation of the geometric farnesylated analogues of the a-factor mating peptide of Saccharomyces cerevisiae Journal of Organic Chemistry. 65: 8552-8563. PMID 11112575 DOI: 10.1021/jo000942m  1
2000 Zahn TJ, Weinbaum C, Gibbs RA. Grignard-mediated synthesis and preliminary biological evaluation of novel 3-substituted farnesyl diphosphate analogues. Bioorganic & Medicinal Chemistry Letters. 10: 1763-6. PMID 10937743 DOI: 10.1016/S0960-894X(00)00337-1  1
2000 Xie H, Becker JM, Gibbs RA, Naider F. Structure, biological activity and membrane partitioning of analogs of the isoprenylated a-factor mating peptide of Saccharomyces cerevisiae Journal of Peptide Research. 55: 372-383. PMID 10863934 DOI: 10.1034/j.1399-3011.2000.00705.x  1
2000 Zahn TJ, Eilers M, Guo Z, Ksebati MB, Simon M, Scholten JD, Smith SO, Gibbs RA. Evaluation of isoprenoid conformation in solution and in the active site of protein-farnesyl transferase using carbon-13 labeling in conjunction with solution- and solid-state NMR Journal of the American Chemical Society. 122: X. DOI: 10.1021/ja000860f  1
2000 Zahn TJ, Eilers M, Guo Z, Ksebati MB, Simon M, Scholten JD, Smith SO, Gibbs RA. Evaluation of isoprenoid conformation in solution and in the active site of protein-farnesyl transferase using carbon-13 labeling in conjunction with solution- and solid-state NMR Journal of the American Chemical Society. 122: X.  1
2000 Gibbs RA. Farnesyltransferase inhibitors: Novel anticancer mechanisms and new therapeutic applications Current Opinion in Drug Discovery and Development. 3: 585-596.  1
1999 Gibbs BS, Zahn TJ, Mu Y, Sebolt-Leopold JS, Gibbs RA. Novel farnesol and geranylgeraniol analogues: A potential new class of anticancer agents directed against protein prenylation. Journal of Medicinal Chemistry. 42: 3800-8. PMID 10508429 DOI: 10.1021/jm9902786  1
1999 Eummer JT, Gibbs BS, Zahn TJ, Sebolt-Leopold JS, Gibbs RA. Novel limonene phosphonate and farnesyl diphosphate analogues: design, synthesis, and evaluation as potential protein-farnesyl transferase inhibitors. Bioorganic & Medicinal Chemistry. 7: 241-50. PMID 10218815 DOI: 10.1016/S0968-0896(98)00202-8  1
1999 Shao Y, Eummer JT, Gibbs RA. Stereospecific synthesis and biological evaluation of farnesyl diphosphate isomers Organic Letters. 1: 627-630.  1
1998 Zahn TJ, Ksebati MB, Gibbs RA. Synthesis and conformational analysis of di-13C-labeled farnesyl diphosphate analogs Tetrahedron Letters. 39: 3991-3994. DOI: 10.1016/S0040-4039(98)00751-5  1
1997 Mu Y, Gibbs RA. Design and synthesis of chiral and racemic phosphonate-based haptens for the induction of aldolase catalytic antibodies Bioorganic and Medicinal Chemistry. 5: 1327-1337. PMID 9377093 DOI: 10.1016/S0968-0896(97)00088-6  1
1997 Dawe AL, Becker JM, Jiang Y, Naider F, Eummer JT, Mu YQ, Gibbs RA. Novel modifications to the farnesyl moiety of the a-factor lipopeptide pheromone from Saccharomyces cerevisiae: A role for isoprene modifications in ligand presentation Biochemistry. 36: 12036-12044. PMID 9315841 DOI: 10.1021/bi9709755  1
1996 Mu Y, Omer CA, Gibbs RA. On the stereochemical course of human protein-farnesyl transferase Journal of the American Chemical Society. 118: X-1823. DOI: 10.1021/ja953005i  1
1995 Gibbs RA, Krishnan U, Dolence JM, Poulter CD. A stereoselective palladium/copper-catalyzed route to isoprenoids: Synthesis and biological evaluation of 13-methylidenefarnesyl diphosphate Journal of Organic Chemistry. 60: 7821-7829.  1
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.  1
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.  1
1994 Gibbs RA, Krishnan U. A Pd(0)-catalyzed route to 13-methylidenefarnesyl diphosphate Tetrahedron Letters. 35: 2509-2512. DOI: 10.1016/S0040-4039(00)77157-7  1
1993 Gibbs RA, Qi Mu Y, Wang F. An NMR method for elucidating the stereochemistry of protein farnesylation Bioorganic and Medicinal Chemistry Letters. 3: 281-284. DOI: 10.1016/S0960-894X(01)80893-3  1
1992 Gibbs RA, Taylor S, Benkovic SJ. Antibody-catalyzed rearrangement of the peptide bond. Science (New York, N.Y.). 258: 803-5. PMID 1439788  1
1992 Gibbs RA, Benkovic PA, Janda KD, Lerner RA, Benkovic SJ. Substituent effects on an antibody-catalyzed hydrolysis of phenyl esters: Further evidence for an acyl-antibody intermediate Journal of the American Chemical Society. 114: 3528-3534.  1
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  1
1991 Janda KD, Ashley JA, Jones TM, McLeod DA, Schloeder DM, Weinhouse MI, Lerner RA, Gibbs RA, Benkovic PA, Hilhorst R, Benkovic SJ. Catalytic antibodies with acyl-transfer capabilities: Mechanistic and kinetic investigations Journal of the American Chemical Society. 113: 291-297.  1
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