Search Results
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… Jun 25 [updated 2022 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. …
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 …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… rheumatology training at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… A Benkahla, SK Kassim, N Mulder, SN Adebamowo, ER Chimusa, RA Gibbs, D Muzny46, G Metcalf, TrypanoGEN Research Group‡, C … DR Parekh, WJ Franklin, DJ Penny, CD Fraser, JR Lupski, RA Gibbs, E Boerwinkle, JW Belmont. Whole Exome Sequencing in … S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Genetic architecture …
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 …
Talking Glossary
CRISPR (short for “clustered regularly interspaced short palindromic repeats”) is a technology that research scientists use to selectively modify the DNA of living organisms.
Educational Resources
Centrioles are paired barrel-shaped organelles located in the cytoplasm of animal cells near the nuclear envelope.
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… TJ, *Bell DW, *Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska … *Kwak EL, *Sordella R, *Bell DW, *Godin-Heymann N, Okimoto RA, Brannigan BW, Harris PL, Driscoll DR, Fidias P, Lynch T, … * Equal authorship. [ PubMed ] Bell DW, Gore I, Okimoto RA, Godin-Heymann N, Sordella R, Mulloy R, Sharma SV, …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… the AAV9-ABE-c.1824 C/T DNA base editors are capable of systemic delivery in mice and can achieve 8-30% mutation …