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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
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… January 2021. She is a Project Scientist for the Clinical Genome Resource (ClinGen), a consortium of more than 1,400 … team and as a Senior Scientific Curator for the NHGRI-EBI GWAS Catalog. Prior to that, Dr. Morales served as a Team …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
… Clinical Research Section of the National Human Genome Research Institute in Bethesda, United States from … a neuroanatomic quantitative phenotype for ongoing genomic studies. In our genomics, we first identify facets of the … brain phenotypes for both gene discovery (through GWAS) and gene understanding. Translational studies: We are …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… through a joint Children’s National/National Human Genome Research Institute program. After completing this … to coronaviruses: kinetics, correlates of protection, and association with severity . Nat Commun . 2020 Sep … LG. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations . Am J Hum Genet …
Staff
Dr. Gouveia is a research fellow in the Center for Research on Genomics and Global Health.
… in genomics and statistical genetics at the National Human Genome Research Institute (NHGRI). Currently, he is a … leadership roles in large multidisciplinary longitudinal studies, including the EPIGEN-Brazil , ELSI-Brazil , and … the Americas, and Europe, and implications for admixture/association mapping of complex traits,” was funded by NHGRI …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… the laboratory of Eric Lander, Ph.D., and the newly formed genome center. Dr. Segre then performed postdoctoral training … University of Chicago. Dr. Segre joined the National Human Genome Research Institute of NIH in 2000 and was promoted to … significant advantages over traditional culture-based studies to capture microbial diversity. MGS explores two …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… in the Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of … She has spearheaded two large international collaborative studies regarding the genetics of Parkinson's disease and … encountered in "simple" Mendelian disorders, the association between Gaucher disease and parkinsonism and the …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… before moving in 1993 to NIH's National Center for Human Genome Research, renamed the National Human Genome Research … More recently, Dr. Liu’s group has focused on clinical studies of familial platelet disorder with associated myeloid … American Society for Clinical Investigation (ASCI) and the Association of American Physicians (AAP), and elected fellow …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… and Surgeons, Columbia University. During her Ph.D. studies, she worked with Stephen Goff, Ph.D., Columbia … She started her own laboratory at the National Human Genome Research Institute at the end of 1997 and was promoted … is the recipient of a Searle Scholar's Award, the American Association of Immunologists BD-Pharmingen Biosciences Award …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… and cobalamin metabolic disorders. The clinical research studies are paralleled by laboratory investigations that have … serves on the medical advisory board of the Organic Acid Association (OAA). … The research interests of the section … or only in hepatocytes. The results in all the studies are striking: while the untreated Mut-/- mice …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… … Dr. Ours research interests involve natural history studies of segmental overgrowth disorders which focus on … teratoma in an adolescent with Proteus syndrome: A novel association . Clin Case Rep . 2021;9(5):e04143. Ours CA , …