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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 …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
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. 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, …
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 May 2021.
… to American Academy of Arts & Sciences 12 2021 ACMG David L. Rimoin Lifetime Achievement Award in Medical …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… Integration of Whole Genome Sequencing: A Policy Analysis David Kaufman Amy McGuire 2011 Summary Statement Full … and Biorepository Informed Consent Christian Simon David Klein Helen Schartz 2011 Summary Statement Full …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… research across the African continent. Sarah is the David and Lyn Silfen University Professor in Genetics and …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… C, Turner J, Peters K, Abbott MH, Aughton DJ, Curry CJ, David A, Dinulos MB, Fox MA, Graham JM, Jr, Grange K, …
File
… was the theme for a very well received Highlights Plenary. David Glazer, Director of Engineering at Google spoke on … WomenÕs Hospital in Boston, MA. ACMGÕs Medical Director David Flannery, MD, FAAP, FACMG established this award to … is the proud recipient of the inaugural ACMG Foundation/David L. Rimoin Inspiring Excellence Award. He was selected …