Search Results
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision Medicine Research Into Practice * Dr. David R. Williams , Florence Sprague Norman and Laura Smart Norman …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… African- ancestry specific-variants for metabolic syndrome. Mol Genet Metab, 2015 Oct 23 (epub ahead of print). … G, Franceschini N, Heinrich J, Rotter JI, Wijmenga C, Williams OD, Bentley AR, Hofman A, Laurie CC, Lumley T, …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… doi:10.1038/s41467-019-09373-w. 2019. [ PubMed ] Kim J, Williams FJ, Dreger DL, Plassais J, Davis BW, Parker HG, … MAR. Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … Ferguson R, Scurr I, Ours … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… C, Sehgal A, Tozan Y, Tracey KJ, Urnov F, Wattendorf D, Williams TW, Zhao X, Hayden MR. Opportunities and challenges … Phadnis M, Smith J, Agwai CI, Okoye O, Abdu A, Wilson J, Williams W, Salako BL, Parekh RS, Tayo B, Adu D, Ojo A; … Sokunbi O, Kruszka P, Muenke M, Adeyemo AA . Hajdu-Cheney syndrome with atypical cardiovascular abnormalities. Am J Med …