Publications

Export 482 results:


Filters: Author is Richard A Gibbs  [Clear All Filters]
2018
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. Diagn Microbiol Infect Dis. 2018 ;90(4):241-247.
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, Huylmans A-K, Kemena C, Kremer LPM, Lee SL, Lopez-Ezquerra A, Mallet L, Monroy-Kuhn JM, Moser A, Murali SC, Muzny DM, Otani S, Piulachs M-D, Poelchau M, Qu J, Schaub F, Wada-Katsumata A, Worley KC, Xie Q, Ylla G, Poulsen M, Gibbs RA, Schal C, Richards S, Belles X, Korb J, Bornberg-Bauer E. Hemimetabolous genomes reveal molecular basis of termite eusociality. Nat Ecol Evol. 2018 ;2(3):557-566.
Brammer DW, Gillespie PJ, Tian M, Young D, Raveendran M, Williams LE, Gagea M, Benavides FJ, Perez CJ, Broaddus RR, Bernacky BJ, Barnhart KF, Alauddin MM, Bhutani MS, Gibbs RA, Sidman RL, Pasqualini R, Arap W, Rogers J, Abee CR, Gelovani JG. MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proc Natl Acad Sci U S A. 2018 ;115(11):2806-2811.
Ruiz-García R, Vargas-Hernandez A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 ;.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EYilmaz, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HGurhan, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BMerfort, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, V Sutton R, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
2017
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 ;121(4):314-319.
Brody JA, Morrison AC, Bis JC, O'Connell JR, Brown MR, Huffman JE, Ames DC, Carroll A, Conomos MP, Gabriel S, Gibbs RA, Gogarten SM, Gupta N, Jaquish CE, Johnson AD, Lewis JP, Liu X, Manning AK, Papanicolaou GJ, Pitsillides AN, Rice KM, Salerno W, Sitlani CM, Smith NL, Heckbert SR, Laurie CC, Mitchell BD, Vasan RS, Rich SS, Rotter JI, Wilson JG, Boerwinkle E, Psaty BM, L Cupples A. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs RA, Bonafe L, Campos-Xavier ABelinda, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 ;173(3):733-739.
Deverka PA, Majumder MA, Villanueva AG, Anderson M, Bakker AC, Bardill J, Boerwinkle E, Bubela T, Evans BJ, Garrison N'A, Gibbs RA, Gentleman R, Glazer D, Goldstein MM, Greely H, Harris C, Knoppers BM, Koenig BA, Kohane IS, La Rosa S, Mattison J, O'Donnell CJ, Rai AK, Rehm HL, Rodriguez LL, Shelton R, Simoncelli T, Terry SF, Watson MS, Wilbanks J, Cook-Deegan R, McGuire AL. Creating a data resource: what will it take to build a medical information commons?. Genome Med. 2017 ;9(1):84.
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, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 ;173(9):2451-2455.
Pearce SL, Clarke DF, East PD, Elfekih S, Gordon KHJ, Jermiin LS, McGaughran A, Oakeshott JG, Papanicolaou A, Perera OP, Rane RV, Richards S, Tay WT, Walsh TK, Anderson A, Anderson CJ, Asgari S, Board PG, Bretschneider A, Campbell PM, Chertemps T, Christeller JT, Coppin CW, Downes SJ, Duan G, Farnsworth CA, Good RT, Han LB, Han YC, Hatje K, Horne I, Huang YP, Hughes DST, Jacquin-Joly E, James W, Jhangiani S, Kollmar M, Kuwar SS, Li S, Liu N-Y, Maibeche MT, Miller JR, Montagne N, Perry T, Qu J, Song SV, Sutton GG, Vogel H, Walenz BP, Xu W, Zhang H-J, Zou Z, Batterham P, Edwards OR, Feyereisen R, Gibbs RA, Heckel DG, McGrath A, Robin C, Scherer SE, Worley KC, Wu YD. Erratum to: Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. BMC Biol. 2017 ;15(1):69.
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 HV, Dolan A, Dugan S, Friedrich M, Gasperi G, Geib S, Georgakilas G, Gibbs RA, Giers SD, Gomulski LM, González-Guzmán M, Guillem-Amat A, Han Y, Hatzigeorgiou AG, Hernández-Crespo P, Hughes DST, Jones JW, Karagkouni D, Koskinioti P, Lee SL, Malacrida AR, Manni M, Mathiopoulos K, Meccariello A, Munoz-Torres M, Murali SC, Murphy TD, Muzny DM, Oberhofer G, Ortego F, Paraskevopoulou MD, Poelchau M, Qu J, Reczko M, Robertson HM, Rosendale AJ, Rosselot AE, Saccone G, Salvemini M, Savini G, Schreiner P, Scolari F, Siciliano P, Sim SB, Tsiamis G, Ureña E, Vlachos IS, Werren JH, Wimmer EA, Worley KC, Zacharopoulou A, Richards S, Handler AM. 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 Biol. 2017 ;18(1):11.
Eyun S-I, Soh HYoung, 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, Park E-O, Silva JC, Gibbs RA, Richards S, Lee CEunmi. Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda. Mol Biol Evol. 2017 ;34(8):1838-1862.
Sabo A, Mishra P, Dugan-Perez S, V Voruganti S, Kent JW, Kalra D, Cole SA, Comuzzie AG, Muzny DM, Gibbs RA, Butte NF. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 ;25(7):1270-1276.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, V Sutton R, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RAlan, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 ;3(2):a000984.
Rustagi N, Zhou A, W Watkins S, 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. 2017 ;18(1):396.
Venner E, Leduc MS, Bainbridge MN, Wu T-J, Kovar C, Chiang T, Murugan M, Salerno W, Muzny D, Gibbs RA. Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform [Internet]. Phoenix: ACMG Annual Clinical Genetics Meeting 2017; 2017. http://epostersonline.com/acmg2017/node/2480
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, Anderson CJ, Asgari S, Board PG, Bretschneider A, Campbell PM, Chertemps T, Christeller JT, Coppin CW, Downes SJ, Duan G, Farnsworth CA, Good RT, Han LB, Han YC, Hatje K, Horne I, Huang YP, Hughes DST, Jacquin-Joly E, James W, Jhangiani S, Kollmar M, Kuwar SS, Li S, Liu N-Y, Maibeche MT, Miller JR, Montagne N, Perry T, Qu J, Song SV, Sutton GG, Vogel H, Walenz BP, Xu W, Zhang H-J, Zou Z, Batterham P, Edwards OR, Feyereisen R, Gibbs RA, Heckel DG, McGrath A, Robin C, Scherer SE, Worley KC, Wu YD. Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. BMC Biol. 2017 ;15(1):63.
Wang X, Charng W-L, Chen C-A, Rosenfeld JA, Shamsi AAl, Al-Gazali L, McGuire M, Mew NAh, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 ;49(4):613-617.
Nash AK, Auchtung TA, Wong MC, Smith DP, Gesell JR, Ross MC, Stewart CJ, Metcalf GA, Muzny DM, Gibbs RA, Ajami NJ, Petrosino JF. The gut mycobiome of the Human Microbiome Project healthy cohort. Microbiome. 2017 ;5(1):153.
Marom R, Jain M, Burrage LC, Song I-W, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 ;38(10):1365-1371.
Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng W-L, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
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, Eibner C, Extavour CG, Funch P, Garb J, Gonzalez LB, Gonzalez VL, Griffiths-Jones S, Han Y, Hayashi C, Hilbrant M, Hughes DST, Janssen R, Lee SL, Maeso I, Murali SC, Muzny DM, da Fonseca RNunes, Paese CLB, Qu J, Ronshaugen M, Schomburg C, Schönauer A, Stollewerk A, Torres-Oliva M, Turetzek N, Vanthournout B, Werren JH, Wolff C, Worley KC, Bucher G, Gibbs RA, Coddington J, Oda H, Stanke M, Ayoub NA, Prpic N-M, Flot J-F, Posnien N, Richards S, McGregor AP. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017 ;15(1):62.
Larsen PA, R Harris A, Liu Y, Murali SC, C Campbell R, Brown AD, Sullivan BA, Shelton J, Brown SJ, Raveendran M, Dudchenko O, Machol I, Durand NC, Shamim MS, Aiden ELieberman, Muzny DM, Gibbs RA, Yoder AD, Rogers J, Worley KC. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 ;15(1):110.
Prall TM, Graham ME, Karl JA, Wiseman RW, Ericsen AJ, Raveendran M, R Harris A, Muzny DM, Gibbs RA, Rogers J, O'Connor DH. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. 2017 ;69(5):325-339.