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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… genomic and cDNA libraries for genome research in genetic diseases. In 1993, Dr. Chandrasekharappa joined the … CGU developed resources and aided in the construction of genetic, physical and transcript maps of the locus on 17q. …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… to cancer research. His recent studies investigate the genetic and epigenetic basis of cancers in adult and …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… from Howard University. She has conducted research on genetic epidemiology of metabolic disorders especially … 6. doi: 10.1002/art.40541 Pattaro C…, Doumatey A, et al. Genetic associations at 53 loci highlight cell types and … Central PMCID: PMC4735748. Locke AE…, Doumatey A, et al. Genetic studies of body mass index yield new insights for …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… … Dr. Bell has devoted her career to understanding the genetic and genomic alterations that drive solid tumors. In … functional domains, these findings provide compelling genetic evidence that mutations in CHD4, FBXW7 , and SPOP are … Lim D-S, and Myung K. Predisposition to cancer caused by genetic and functional defects of mammalian Atad5 . PLoS …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… as well as investigation into global patterns of human genetic variation. Applied research includes mapping genetic variants that influence obesity and anthropometric … S. 2015. Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension. …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… team uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish … phenotypic spectra and the natural history of known genetic conditions. Their focus is on early-onset muscle … F. Muntoni, C.G. Bönnemann. Clinical, histological and genetic characterization of reducing body myopathy caused by …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… … For almost 30 years, Dr. Aksentijevich has used genetic and genomic approaches to understand human … system. Dr. Aksentijevich subsequently discovered the genetic basis of two disorders in which interleukin 1b plays … ancestral origins, genotype-phenotype studies, and further genetic heterogeneity of periodic fevers. Am J Hum Gene,t …
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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… components of human disease. He is interested in studying genetic mutations that lead to perturbations in normal … and birth defects. His laboratory focuses on identifying genetic variants that alter an individual's risk of … of affected Irish families. This team has identified human genetic variants in the majority of the genes encoding the …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… well-characterized for decades, less is known about the genetic and developmental processes responsible for this condition, making genetic counseling and molecular diagnosis difficult. The Brooks laboratory integrates clinical and genetic data from uveal coloboma patients with molecular, …