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Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… McManus, ND Mercaldo, MF Myers, SC Sanderson, A Scrol, JL Williams, MJ Shrubsole, JS Schildcrout, ME Smith, EW Clayton, … B, Rasouly HM, Wynn J, Fedotov A, Chung W, Gharavi A, Williams J, Pais L, Holm I, Aufox S, Smith M, Scrol A, Leppig … AKT1 polymorphisms are associated with risk for metabolic syndrome. Human Genetics , 129:129. 2011. [ PubMed ] AN Kho, …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Staff
Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025.
… E, Baxevanis AD, Sheffield VC, and Green ED: Pendred syndrome is caused by mutations in a putative sulphate … N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, … PubMed ] Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Reduces Pain, Improves Symptoms in People with Proteus Syndrome More Progress Toward Gene Editing for Kids with …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have … Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … of Public Health , 99(12): 2203-9. 2009. Ersig, AL, Williams, JK, Hadley, DW, and Koehly, LM. Communication, …
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 …
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.
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.
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… will discuss their groundbreaking research. Chris Williams, Ph.D., STEM Education Specialist at NMAAHC, will …