Search Results
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
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. 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 …
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.
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 …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… Nature, 517(7534):327-32. 2015. [ PubMed ] Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, … Africans. Front Genet, 6:335. 2015.[ PubMed ] Gbadegesin RA, Adeyemo A, Webb NJ, Greenbaum LA, Abeyagunawardena A, … Adeyemo A, Gupta IR, Brophy PD, Rabinovich CE, Gbadegesin RA. Rare variants in tenascin genes in a cohort of children …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre …