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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… the design and development of HTS assays from the genetic basis of a disease is one way to initiate the …
Staff
Dr. Carolyn M. Hutter was the director of the Division of Genome Sciences at the National Human Genome Research Institute.
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… diseases: their natural history, diagnosis, treatment, and genetic causes. She was involved in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
Staff
Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI)
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… explore the pathophysiology and develop new therapies for genetic and metabolic disorders. During her training as a …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… disease.” Dr. Morales is interested in the role of human genetic variation in health and disease and in leveraging …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
Staff
Shawneequa Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health.
… completed a post-doctoral fellowship at the Center for Genetic Research Ethics and Law, an interdisciplinary center …
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.
… Adams, D.R.; Markello, T.C.; Toro, C.; Tifft, C.J. (2019). Genetic approaches to rare and undiagnosed diseases. Nelson … Eng CM. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders . N Engl J Med . 2018 Oct …