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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.Â
… expands the phenotypic spectrum of disease. PB3464 David Bernard Vitamin B12-deficient mice lacking the … Gene Therapy Education for Patient Communities. PB2369 David Adams Development of a comprehensive framework for …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… 11 Mourning the Loss of Jo Messing 12 Mourning the Loss of David Hogness 13 2019 American Society of Human Genetics …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… Cyrine-Elaina Haidar, PharmD, BCPS, BCOP, FASHP and David Kisor, PharmD, FCP … … Economics of Pharmacogenomic …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… in the Inborn Errors of Vitamin B12 (cobalamin) Metabolism David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. High-Dose B12 … M.D., Ph.D., Senior Investigator, NHGRI Panelists: David S. Rosenblatt, Harvey Levy, Marzia Pasquali, Martina …
Event
On October 25-29, 2022, 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.
… Rare Disease Phenotyping: What is Next? Board No. PB3237 David Adams Convention Center, South Exhibit Hall 3:00 p.m. — … in the All of Us Research Program Board No. PB2109 David Schlueter Convention Center, South Exhibit Hall 3:00 … of coding variants, from benchtop to desktop David Adams Convention Center, Petree C/West Building 5:15 …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Metabolism An article published at Genereviews.org by David Adams, M.D., Ph.D. and study clinical director Charles …
The Genomics Landscape
In the September 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Robert Rivers as the new director for institute’s Training, Diversity, and Health Equity (TiDHE) Office.
… Collection — Sara Tishkoff, Ph.D. CPHR Seminar Series — David Liu, Ph.D. Journeys in Human Genetics and Genomics …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… Research NHGRI's Oral History Collection: Interview with David Schlessinger Funding News Clarification: Fixed Amount …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… P, Newman TL, Tuzun E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, … Cruz P; NISC Comparative Sequencing Program, Driscoll C, David V, Al-Murrani SW, Locniskar MF, Abrahamsen MS, O'Brien … 2012. [ PubMed ] Kaelin CB, Xu X, Hong LZ, David VA, McGowan KA, Schmidt-Küntzel A, Roelke ME, Pino J, …