Search Results
File
… awards that represented their respective committees. Th e committee achieved this goal. The following members were … es, Meetings, and/or Events: Working with office staff on e-Updates newsletter, redesi gn of website, coordination of … University Sivia Barnoy Tel-Aviv University Caroline Benjamin School of Health, University of Central Lancashire …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… in human genes and their association with disease (e.g. Human Variome Project, UNESCO, ClinVar, ExAC etc.). It …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… JB, Gowans LJJ, Eshete MA, Adeyemo WL, Alade A, Zeng E, Adamson O, James O, Fashina A, Ogunlewe MO, Naicker T, … ]  van der Linden EL, Meeks KAC , Chilunga F, Hayfron-Benjamin C, Bahendeka S, Klipstein-Grobusch K, Venema A, van … Genet Med  2016. [ PubMed ] Koretzky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A , Muenke M, Hull SC. …
File
… i at i o n fo r Mo l ec u l ar P at h o l o gy Mi c h el l e Bi sh o p Health Education England Genomics Education … Clinical and Continuing Education Program Maggi e Fagan Nati onal Insti tutes of Heal th/Cl i ni cal Center … of Child Health a nd Human Devel Vi c ky Pratt IGNITE Benjamin Raby Am eri c an Th o rac i c So c i et y Kate Reed …
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.
… features that track with behavioral health traits (e.g., activity, sleep, imaging, etc.) and build novel phenotypes (e.g., predicted suicide risk, predicted carrier of genetic … ] Wei, W. Q., Bastarache, L. A., Carroll, R. J., Marlo, J. E., Osterman, T. J., Gamazon, E. R., … Denny, J. C. (2017). …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
​
… the Bonham and Sellers R acial A ttributes in C linical E valuation (RACE) scale . Additionally, he created an index … to assess the social environment and psychosocial status (e.g., stress, discrimination, stigma and depression) of … , (5):737-8. 2004. [ PubMed ] Bonham V., Warshauer Baker E., Collins F.C. Race and ethnicity in the genomic era: a …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
​
… Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, … Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A Multicenter Study of Glucocerebrosidase Mutations in … PLoS Genetics , 7(8):e1002245. 2011. [ PubMed ] Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… Department of Health and Human Services Secretary Donna E. Shalala signs documents giving National Center for Human … CRIA syndrome . November 12, 2019: NHGRI appoints Dr. Benjamin Solomon as clinical director. … 2020 January 21, …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Even if DTC-GT shows a potentially actionable result (e.g., a test detects a BRCA1 pathogenic variant), these … or have no confirmed gene to phenotype correlation (e.g., genetic testing to see which vitamins a person should … several common diseases by testing for low-risk genes (e.g., variants in HLA-DQA1 and HLA-DQB1 genes for celiac …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… small molecule inhibitor of EGFR .  The image shows an H&E stained section of a serous endometrial carcinoma. The … 1999. [ PubMed ] Cantor S, Bell DW, Ganesan S, Kass E, Drapkin R, Grossman S, Wahrer DCR, Sgroi DC, Lane W, Haber … Haber DA, and Hariharan IK. Archipelago regulates Cyclin E levels in Drosophila and is mutated in human cancer cell …