Search Results

81 - 90 of 338
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… 12. [ PubMed ] Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. Management of Secondary Genomic … Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered … and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med . …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… Co-Chairs: Ken L. Wiley Jr., Ph.D. and Marc S. Williams, M.D. 12-10 - 12:30 p.m. - 2020 NHGRI Strategic … M.B.A., Ph.D. 12:30 - 1:45 p.m.    Survey Review Marc S. Williams, M.D.   Technical desiderata for gCDS: A Reflection … and Introductions Ken L. Wiley Jr., Ph.D. and Marc S. Williams, M.D. Session 4: Defining a research agenda that …
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 …
File
… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … of Human Malformation syndromes in Diverse populations (Williams Syndrome, … 22q11.2 Syndrome, Turner Syndrome, Noonan Syndrome, Williams Syndrome). (University of Sri Lanka and NHGRI, NIH). …
About NHGRI
NHGRI's commitment to promoting diversity, equity, and inclusion within our Institute to achieve the highest level of genomic innovation, reduce health disparities and foster health equity in areas related to genomics and genomic medicine.
… and what we can do about them October 8, 2020 David R. Williams, Ph.D. Harvard T.H. Chan School of Public Health … …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… that is associated with melanoma and Waardenburg syndrome type 4. His team also helped to identify the …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… of pre-emptive genomics in employee wellness Marc Williams (Geisinger) 9:50-10:10 a.m. Discussion Moderator: … Rowley (NHGRI) 1:40 - 2:00 p.m. Discussion Moderator: Marc Williams (Geisinger) 2:00 - 2:20 p.m. Break 2:20 - 3:00 p.m. …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, … Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. Characterizing genetic variants for clinical … P, Marazita ML, Ordovas JM, Pato CN, Spitz MR, Wagener D, Williams M, Junkins HA, Harlan WR, Ramos EM, Haines J. The …
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
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF. Prospective, multi-site study of …