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ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Peter Tarczy-Hornoch, University of Washington Richard Sharp, Mayo Clinic Georgia L. Weisner, Vanderbilt …
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 2021.
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M. A common variant of the …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… . Nat Med. 2021;27(3):536-545. Koblan LW, Erdos MR, Wilson C, Cabral WA, Levy JM, Xiong ZM, Tavarez UL, Davison …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… of precision therapeutics. … Koblan LW, Erdos MR, Wilson C, Cabral WA, Levy JM, Xiong ZM, Tavarez UL, Davison …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… 1, 4, and 7. BMC Genet. 2005 Dec 30;6 Suppl 1:S4. Wilson JG, Rotimi CN, Ekunwe L, Royal CD, Crump ME, Wyatt SB, …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute.
… TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer …
File
… Welcome and Introductions (slides ): ISC C-PEG Co -Chairs Richard Haspel, M.D., Ph.D. (Beth Israel Deaconess Medical … on Review of Materials and Dissemination” document : Richard Haspel, M.D., Ph.D. and Carla Easter, Ph.D., ISCC …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… Functional Elements with Bru-Seq Technology UM1 HG009382 Richard Myers Eric Mendenhall HudsonAlpha Institute for …
File
… Hall, PhD, FACMG, of Emory University, received the 2015 Richard King Trainee Award for her manuscript titled, … December 2014 issue of Genetics in Medicine. Named for Dr. Richard King in recognition of his instrumental role in …