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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the causes of phenotypic diversity encountered in a single gene disorder, and applies gained insights to better … factors contributing to clinical heterogeneity in single gene disorders, and to develop new therapies for patients. … and polymorphism spectrum in the glucocerebrosidase gene ( GBA ). Hum Mutation , 29:567-83. 2008. [ PubMed ] …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… research including genome-wide association studies, gene-environment interactions, genomic risk assessment and … Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… Nature, handling the areas of genetics, genomics, and gene therapy. She then joined the HudsonAlpha Institute for … of genetic literacy, especially in complex genetics and gene x environment contexts. Evaluate impact and …
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
Staff
Britny Kish is the deputy director for the NHGRI's Office of Communications.
… events for the launch of the film “Ken Burns Presents the Gene: An Intimate Story.” Britny also served on the …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… Program. … Dr. Denny’s laboratory seeks to discover gene-disease relationships by gathering, assessing, and … the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics , 26 (9), … Gifford, A., … Denny, J.C. (2018). Rare variants in the gene ALPL that cause hypophosphatasia are strongly associated …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… population), his studies have progressed through candidate gene studies to genome wide association studies and …
Staff
Jennifer Strasburger was the lead Genomic Program Administrator (GPA) for NHGRI as well as the co-chair for the NHGRI Data Access Committee (DAC).
… a portfolio of grants focused on post-transcriptional gene regulation. Her NCI portfolio also included grants …
Staff
Christopher R. Donohue is historian at the National Human Genome Research Institute (NHGRI) and co-manages the NHGRI History of Genomics Program.