Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

por Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Publicado 2020

16S gut community of the Cameron County Hispanic Cohort

por Ross, Matthew C, Muzny, Donna M, McCormick, Joseph B, Gibbs, Richard A, Fisher-Hoch, Susan P, Petrosino, Joseph F
Publicado 2015

The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes

por Challis, Danny, Antunes, Lilian, Garrison, Erik, Banks, Eric, Evani, Uday S, Muzny, Donna, Poplin, Ryan, Gibbs, Richard A, Marth, Gabor, Yu, Fuli
Publicado 2015

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

por Collison, Frederick T., Xie, Yajing (Angela), Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Fishman, Gerald A., Allikmets, Rando
Publicado 2015

Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35

por Boonma, Prapaporn, Spinler, Jennifer K., Qin, Xiang, Jittaprasatsin, Chutima, Muzny, Donna M., Doddapaneni, Harsha, Gibbs, Richard, Petrosino, Joe, Tumwasorn, Somying, Versalovic, James
Publicado 2014

Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study

por Loomis, Stephanie J., Köttgen, Anna, Li, Man, Tin, Adrienne, Coresh, Josef, Boerwinkle, Eric, Gibbs, Richard, Muzny, Donna, Pankow, James, Selvin, Elizabeth, Duggal, Priya
Publicado 2019

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

por Bainbridge, Matthew N, Wang, Min, Wu, Yuanqing, Newsham, Irene, Muzny, Donna M, Jefferies, John L, Albert, Thomas J, Burgess, Daniel L, Gibbs, Richard A
Publicado 2011

Whole Genome Sequence of Treponema pallidum ssp. pallidum, Strain Mexico A, Suggests Recombination between Yaws and Syphilis Strains

por Pětrošová, Helena, Zobaníková, Marie, Čejková, Darina, Mikalová, Lenka, Pospíšilová, Petra, Strouhal, Michal, Chen, Lei, Qin, Xiang, Muzny, Donna M., Weinstock, George M., Šmajs, David
Publicado 2012

Loss-of-function variants influence the human serum metabolome

por Yu, Bing, Li, Alexander H., Metcalf, Ginger A., Muzny, Donna M., Morrison, Alanna C., White, Simon, Mosley, Thomas H., Gibbs, Richard A., Boerwinkle, Eric
Publicado 2016

Extremely low-coverage whole genome sequencing in South Asians captures population genomics information

por Rustagi, Navin, Zhou, Anbo, Watkins, W. Scott, Gedvilaite, Erika, Wang, Shuoguo, Ramesh, Naveen, Muzny, Donna, Gibbs, Richard A., Jorde, Lynn B., Yu, Fuli, Xing, Jinchuan
Publicado 2017

Genetic diversity in India and the inference of Eurasian population expansion

por Xing, Jinchuan, Watkins, W Scott, Hu, Ya, Huff, Chad D, Sabo, Aniko, Muzny, Donna M, Bamshad, Michael J, Gibbs, Richard A, Jorde, Lynn B, Yu, Fuli
Publicado 2010

Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A

por Ling, Paul D., Reid, Jeffrey G., Qin, Xiang, Muzny, Donna M., Gibbs, Richard, Petrosino, Joseph, Peng, RongSheng, Zong, Jian-Chao, Heaggans, Sarah Y., Hayward, Gary S.
Publicado 2013

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

por Schaaf, Christian P., Sabo, Aniko, Sakai, Yasunari, Crosby, Jacy, Muzny, Donna, Hawes, Alicia, Lewis, Lora, Akbar, Humeira, Varghese, Robin, Boerwinkle, Eric, Gibbs, Richard A., Zoghbi, Huda Y.
Publicado 2011

Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology

por English, Adam C., Richards, Stephen, Han, Yi, Wang, Min, Vee, Vanesa, Qu, Jiaxin, Qin, Xiang, Muzny, Donna M., Reid, Jeffrey G., Worley, Kim C., Gibbs, Richard A.
Publicado 2012

Loss of the Polyketide Synthase StlB Results in Stalk Cell Overproduction in Polysphondylium violaceum

por Narita, Takaaki B, Kawabe, Yoshinori, Kin, Koryu, Gibbs, Richard A, Kuspa, Adam, Muzny, Donna M, Richards, Stephen, Strassmann, Joan E, Sucgang, Richard, Worley, Kim C, Schaap, Pauline
Publicado 2020

Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability

por Wang, Richard J., Thomas, Gregg W.C., Raveendran, Muthuswamy, Harris, R. Alan, Doddapaneni, Harshavardhan, Muzny, Donna M., Capitanio, John P., Radivojac, Predrag, Rogers, Jeffrey, Hahn, Matthew W.
Publicado 2020

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

por Yin, Jiani, Chun, Chun-An, Zavadenko, Nikolay N., Pechatnikova, Natalia L., Naumova, Oxana Yu., Doddapaneni, Harsha V., Hu, Jianhong, Muzny, Donna M., Schaaf, Christian P., Grigorenko, Elena L.
Publicado 2020

Whole genome sequence analysis of serum amino acid levels

por Yu, Bing, de Vries, Paul S., Metcalf, Ginger A., Wang, Zhe, Feofanova, Elena V., Liu, Xiaoming, Muzny, Donna Marie, Wagenknecht, Lynne E., Gibbs, Richard A., Morrison, Alanna C., Boerwinkle, Eric
Publicado 2016

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

por Morrison, Alanna C., Bis, Joshua C., Hwang, Shih-Jen, Ehret, Georg B., Lumley, Thomas, Rice, Kenneth, Muzny, Donna, Gibbs, Richard A., Boerwinkle, Eric, Psaty, Bruce M., Chakravarti, Aravinda, Levy, Daniel
Publicado 2014

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

por Wang, Min, Beck, Christine R, English, Adam C, Meng, Qingchang, Buhay, Christian, Han, Yi, Doddapaneni, Harsha V, Yu, Fuli, Boerwinkle, Eric, Lupski, James R, Muzny, Donna M, Gibbs, Richard A
Publicado 2015