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Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic …
Staff
Dr. Ebony Madden is the Health Equity and Workforce Diversity Program Director in the Training, Diversity and Health Equity Office at the National Human Genome Research Institute. ​
… PubMed ] Orlando LA, Sperber NR, Voils C, Nichols M, Myers RA, Wu RR, Rakhra-Burris T, Levy KD, Levy M, Pollin TI, Guan … TI, Pratt VM, Rosenman M, Voils CI, W Weitzel K, Wilke RA, Ryanne Wu R, Orlando LA. Challenges and strategies for …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Arterial Calcification of Infancy . 2020 Dec 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ® … Ferreira CR . Saul-Wilson syndrome 2020 Feb 20. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ® …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… kinds of cancer, obesity, heart disease, diabetes, arthritis, substance abuse, anxiety, aging and Parkinson …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
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, …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
​
… 2119. 2013. [ PubMed ] LJ Rasmussen-Torvik, JA Pacheco, RA Wilke, WK Thompson, MD Ritchie, AN Kho, A Muthalagu, M G … AN McDavid, DB Mirel, JE Paschall, EW Pugh, LV Rasmussen, RA Wilke, RL Zuvich, MD Ritchie. Quality control procedures … R Zuvich, P Peissig, D Carrell, AH Ramirez, J Pathak, RA Wilke, L Rasmussen, X Wang, JA Pacheco, AN Kho, MG Hayes, …
Staff
Dr. Issel Anne Lim is the Deputy Director of the Division of Extramural Operations (DEO) within NHGRI’s Extramural Research Program (ERP).
… Harris AD, Hua J, Barker PB, Ross CA, van Zijl PC, Edden RA, Margolis RL. Age-related changes in anterior cingulate …
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. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… Y, Iyer VR, Green RD, Wadelius C, Farnham PJ, Ren B, Harte RA, Hinrichs AS, Trumbower H, Clawson H, Hillman-Jackson J, … E, Wheeler DA, Worley KC, Jiang H, Weinstock GM, Gibbs RA, Graves T, Fulton R, Mardis ER, Wilson RK, Clamp M, Cuff …