Search Results
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 … Doctors diagnose Wilson disease …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… genome. Nature , 420: 520-562. 2002. [ PubMed ] Gibbs RA, et al., including Elnitski L. Genome sequence of the … Analysis Consortium, Elsik CG, Tellam RL, Worley KC, Gibbs RA, Muzny DM, Weinstock GM, Adelson DL, Eichler EE, Elnitski …
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. Francis Collins is 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
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, …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2020.
… Eye Institute 7 New Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases  8 New …
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. …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
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, …