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- 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. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… interrogation of cellular phenotypes dependent on specific gene alterations arising from mutations and copy number … by protein aggregation-inducing mutations in the SERPINA1 gene; the inherited peripheral neuropathy Charcot-Marie-Tooth … duplication encompassing the peripheral myelin protein 22 gene; and Giant Axonal Neuropathy elicited by …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… the landmark discovery that mutations in the EGFR gene explain the dramatic clinical responses of non-small … Sanger sequencing, coupled with a candidate gene approach, to search for somatic mutations among protein … using a combination of exome sequencing and targeted gene sequencing, the Bell laboratory validated and extended …
Staff
Dr. Carolyn M. Hutter was the director of the Division of Genome Sciences at the National Human Genome Research Institute.​
… consortia work for genome-wide association studies and on gene-environment interactions for cancer and other complex … TA, Green ED. Nat Rev Genet . 2018 Mar;19(3):175-185.  Gene-environment interactions in cancer epidemiology: a … CM, Mechanic LE, Chatterjee N, Kraft P, Gillanders EM; NCI Gene-Environment Think Tank. Genet Epidemiol . 2013 …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… genes, and in which key mitochondrial function that gene product is known to play a role: (A) mitochondrial … can undergo somatic hypermutation and intraclonal Ig VHDJH gene diversification. J Exp Med , 196, 629-639. 2002. [ … P.J. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Musculoskeletal and Skin Diseases (NIAMS) that mapped the gene for FMF to chromosome 16p, and then led an international … consortium that identified the recessively inherited gene by positional cloning in 1997. The gene encodes what was then a novel protein (pyrin) that is …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… studies in the ClinSeq® cohort include discovery of a gene associated with coronary artery calcification using … of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum … Center. The phenotype of a germline mutation in PIGA : The gene somatically mutated in paroxysmal nocturnal …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… which his research team recently identified the causative gene. In its basic research, Dr. Bönnemann's laboratory team … identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy. J Clin Invest … dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet , 73:355-369. …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Cherukuri PF, Maskeri B, Young AC, Adeyemo A, Rotimi CN. Gene-based sequencing identifies lipid-influencing variants … Acheampong J, Adeyemo A, Rotimi CN. Simple f test reveals gene-gene interactions in case-control studies. Int J Nephrol. …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… W, Trent J. Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet , … lung cancer families reveals RGS17 as a likely candidate gene. Clin Cancer Res, 15(8):2666-74. 2009. [ PubMed ] Amos … for Prostate Cancer Genetics. HOXB13 is a susceptibility gene for prostate cancer: results from the International …