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News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute. ​
… [ Full Text ] Persky S, Yaremych HE, Goldring MR, Ferrer RA, Rose, MK, Hollister BM. Investigating the efficacy of … , 2020, 155, 104824. [ PubMed ] Hagerman CJ, Ferrer RA, Klein WMP, Persky S. Association of parental guilt with … 2019. [ PubMed ] Persky S, Kistler WD, Klein WMP, Ferrer RA. Internet versus virtual reality settings for genomics …
News Release
NHGRI's Stacy Desine earned first place after the finals on June 29, 2018, becoming the first postbac to win the TmT competition.
… the National Eye Institute and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). … …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute. ​
… 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
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Tamargo R, Rodriguez-Gil J, Acosta W, Hendrix …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
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. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… Nature Genetics . 2022. [ PubMed ]  Gunter C, Harris, RA, Kovacs-Balint Z, Raveendran M, Michopoulos V, Bachevalier … CJ, Lemieux A, Cox JC, Mandell DS, Van Decar JP, Miller RA, Shireman CL (2015). Toward Innovative, Cost-Effective, and Systemic Solutions to Improve Outcomes and Well-Being of …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak … IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock … Chiaromonte F, Mullikin JC, Eichler EE, Hardison RC, Gibbs RA, Harkins TT, Hayes VM. Complete Khoisan and Bantu genomes …