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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… years. In 2007, she joined Dr. Daniel Kastner’s group that studies autoinflammatory diseases resulting from defects in … in some severely affected individuals. She collaborates on studies involving patients with HA20 (haploinsufficiency of … autoinflammatory diseases: Coming of age with the human genome . J Allergy Clin Immunol . 2020 Nov;146(5):997-1001. …
Staff
Binta Jalloh is a postdoctoral fellow at the Center for Research on Genomics and Global Health (CRGGH).
… to be a research scientist at the CRGGH and National Human Genome Research Institute here at the NIH. … Biography … …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… remain undiagnosed despite extensive medical workup and genome sequencing. Approaches include developing genomic …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… Notre Dame, Indiana. After completion of his undergraduate studies, he attended medical school at the University of … data from participants that have undergone exome or genome sequencing. These participants are consented for … Center for Precision Health Research of the National Human Genome Research Institute. … reverse phenotyping core, center …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute. She completed her Medical School … Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute. … Dr. Sagar is a staff clinician … Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute. … Staff …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… programs. There, he was director of undergraduate studies and a recipient of the Chancellor's Distinguished …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… … Dr. Tifft is a senior clinician at the National Human Genome Research Institute where she serves as deputy clinical … neuronal differentiation and differential gene expression studies. Likewise, the group has used CRISPR/Cas to create … is the deputy clinical director for the National Human Genome Research Institute. … Cynthia Tifft, lysosomal …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… to the American Society for Clinical Investigation and the Association of American Physicians. Dr. Gahl received the Dr. … of these diseases for use in future interventional studies. Section investigators and collaborators have already … a method to determine the percentage of mosaicism in a genome, and a program to create a family-specific reference …
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… program focusing on the revolutionary discovery of an association between mutations in GBA1 and an increased risk … utilizing multiple clinical modalities and neuroimaging studies with the goal of identifying individuals on a …