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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. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial tumor-predisposition … Stewart's group is using genomic approaches to identify genetic modifiers of NF1, thereby uncovering genetic variation that influences phenotype severity (e.g., …
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.
… study design for reverse phenotyping projects, genetic counseling and phenotyping services. These …
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.
… obsessive compulsive disorder (OCD) study volunteers using genetic testing, 7T MRI brain scans, and semi structured … CS, Jacob S. Oxytocin and vasopressin in autism and genetic syndromes . In Fatemi, S. (eds) The Molecular Basis … W, Carter CS, Jacob S. Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders . Brain …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Staff
Sharna Tingle is the Genomic Program Administrator for NHGRI's Division of Extramural Operations.
… Blood Institute Minority Pre-Doctoral Research Fellow, the genetic variation in the 1q31 region and association with …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… deficiency, are in progress. … Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonic acidemia. …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… 2022. Gahl WA, Adams DR Markello TC, Toro C , Tifft CJ. Genetic approaches to rare and undiagnosed diseases. Nelson …
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… in 2022. His interests involve the relationship between genetic variation and phenotypic variation at various scales … individuals and populations. He believes that nothing in genetic epidemiology makes sense except in the light of …
Staff
Dr. Jennifer Troyer is the director of NHGRI's Division of Extramural Operations.
… CA, Carrington M, Dé The G, Zeng Y, O'Brien. The principal genetic determinants for nasopharyngeal carcinoma in China … Cunningham MW, Roca AL, Troyer JL, Johnson WE, O'Brien SJ. Genetic characterization of feline leukemia virus from …