Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… P, Freedman JE, O'Donnell CJ, Levy D, Munson PJ. Gene expression signatures of coronary heart disease. Arterioscler … pathway for L1 and Alu retrotransposition in hominins. Gene . 2009 Dec 15;448(2):233-41 [ PubMed ] Xing J, Zhang Y, …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… cancer-associated metastatic lethal variants and included gene expression studies 46, 47 , 48 , 49 , 50 , 51 . … We have, … CS, Parker HG, Ostrander EA. A mutation in the myostatin gene increases muscle mass and enhances racing performance in …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… Cherukuri PF, Maskeri B, Young AC, Adeyemo AA, Rotimi CN. Gene-based Sequencing Identifies Lipid-Influencing Variants … J, Bentley AR, Adeyemo A, Rotimi C. Simple F test reveals Gene-Gene interactions in Case-Control Studies. Bioinform … AR, Emrani P, Cassano PA. Genetic Variation and Gene Expression in Antioxidant-Related Enzymes and Risk of Chronic …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… and non-coding elements that may be responsible for their expression, and the investigation of the statistical … Fava M, Trivedi M, Wisniewski S, Manji H. Variation in the gene encoding the serotonin 2A receptor is associated with … variant in the platelet endothelial aggregation receptor-1 gene is associated with increased platelet aggregability. …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… as a post-doctoral fellow on the positional cloning of the gene mutated in patients with familial Mediterranean fever … to the linkage mapping and positional cloning of the gene mutated in familial Mediterranean fever (FMF). She went … RG, Kastner DL, and Aksentijevich I. Microarray-based gene expression profiling in patients with CAPS defines a …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… for the first-in-human systemic AAV8 liver-targeted gene therapy and is also involved with the AAV9 gene therapy clinical trials targeting propionic acidemias in … LA, Manoli I , Engle EC. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… KA, Waikel RL, Duong D, Solomon BD. Approximating facial expression effects on diagnostic accuracy via generative AI …
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.
​
… PN, Scott JM and Brody LC. A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… Chen, Zhongcheng Zhou, George Bonney, and Charles Rotimi. Gene Copy Number Analysis For Family data Using … Miller RG et al. Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic … bybrid Model with Application to the analysis of Gene Copy Number Changes. Journal of Applied Statistics. …