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News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… Theater and broadcast live for online viewing. Chris Williams, Ph.D. , STEM Education Specialist at NMAAHC, will … advance rapid diagnosis of COVID-19-related inflammatory syndrome in children Upcoming Videocasts Genomics and Health …
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 …
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). …
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 …
Professional Development Programs
JHU/NIH GCTP Executive Committee is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to the Program and to students as they develop their thesis.
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… 2020 Aug 12. 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 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 the director of the Divison of Genome Sciences 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 …