Search Results
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… 2006. [ PubMed ] Roy-Gagnon M-H, Mathias RA, Fallin MD, Jee SH, Broman, KW, Wilson AF. An extension of … , 72(4):228-36. 2011. [ PubMed ] Suktitipat B, Mathias RA, Vaidya D, Yanek LR, Young JH, Becker LC, Becker DM, …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… amino acids and uric acid in the urine Early onset of arthritis and bone loss …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chesa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… ] Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Tamargo R, Rodriguez-Gil J, Acosta W, Hendrix …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Allergy and Infectious Diseases; the National Institute of Arthritis and Musculoskeletal and Skin Diseases; the National …
Staff
Dr. Jennifer Troyer is the director of NHGRI's Division of Extramural Operations.
… E, Jabs DA, Hendrickson SL, Van Natta M, Zdanov A, Lewis RA, Smith MW, Troyer JL, O'Brien SJ; SOCA Research Group. …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… R, Bastarache L, Peissig P, Carrell D, Pathak J, Wilke RA, Rasmussen L, Wang X, Ramirez AH, Pacheco J, Kho A, Weston … WG, Landi MT, Lettre G, Lin P, Ling H, Lowe W, Mathias RA, Melbye M, Pugh E, Cornelis MC, Weir BS, Goddard ME, …