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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… based in the neuroimaging, social and behavioral sciences, 2) identifying the genomic factors that contribute to the …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… a very high risk of developing a disease; variants of this type, such as those in known breast cancer-linked genes, are … in patients undergoing genetic testing. More than 2,000 distinct BRCA1 and BRCA2 mutations have been identified …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… JA and Conlan S. Draft Genome Sequence of a KPC+ Sequence Type 111 Pseudomonas aeruginosa. GenomeA, 4(1):e01663-15. … Resistance and Colibactin Synthesis Loci. Genome A, 2(6):e01332-14. 2014. [ PubMed ] Oh J, Bryd AL, Deming C, …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… Difference in the Genome Era. Social Forces , 86(2):795-820. 2007. [ PubMed ] Bonham VL, Ramos EM, Unraveling …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… system for the study of complex traits by building maps 2 , 3  , organizing sequencing 4  of the canine genome, and … therapies as humans. However, predisposition to cancer type is often breed-specific. The lab first demonstrated the … remodeling of the DNA methylome. Cell Syst. Aug 26;11(2):176-185.e6. doi:10.1016/j.cels.2020.06.006. 2020. [ PubMed …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… hybridization); and maintain several commonly used wild type, mutant and transgenic zebrafish lines. Since its … to thyroid hormone receptor a in zebrafish . Thyroid 30 (2):314-328. 2020. McElderry J, Carrington B, Bishop K, Kim E, … targeting of tumor cells in zebrafish . Cell Systems, 9 (2): 187-206. 2019. Ramanagoudr-Bhojappa R, Carrington B, …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… autosomal dominant hereditary congenital facial paresis, type 1 (HCFP1). … Tenney AP, Di Gioia SA, Webb BD, Chan WM, … by diffusion MRI morphometry . Brain Commun . 2020;2(1):fcaa014. Manoli I , Sysol JR, Epping MW, Li L, Wang C, … raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency . Genet Med . 2016;19(4):396-404. …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… mutations in the gene encoding adenosine deaminase 2 (ADA2) in patients with early-onset stroke, vasculopathy, … autoinflammatory syndromes. Curr Opin Allergy Clin Immun, 2:511-16. 2002. [ PubMed ] Aksentijevich I, Putnam CD, … mutations in proteasome-subunit-genes induce type 1-interferon production in CANDLE/PRAAS. J Clin Invest, …