Search Results
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… 2008. [ PubMed ] Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… AKT1 polymorphisms are associated with risk for metabolic syndrome. Human Genetics , 129:129. 2011. [ PubMed ] AN Kho, … Science Translational Medicine, 20:79. 2011. [ PubMed ] S Turner, LL Armstrong, Y Bradford, CS Carlson, DC Crawford, AT … Paschall, EW Pugh, LV Rasmussen, LJ Rasmussen-Torvik, SD Turner, RA Wilke, MD Ritchie. Pitfalls of merging GWAS data: …
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… de tres cromosomas X en lugar de dos. El Síndrome de Turner ocurre cuando las mujeres heredan solo una copia del … femeninos X X X X X X Síndrome Síndrome del triple X de Turner 9 Algunas mujeres tienen un raro rasgo de visi�n …
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… Related Intellectual Disability (Beaulieu Boycott Innes Syndrome) in Two Siblings from India. Eur J Med Genet . 2020; … ND , Uwineza A, Duenas -Ropque M , Ekure EN , et al. Turner Syndrome in Diverse Populations. Am J Med Genet A. … Diverse Populations -Prader Willi Syndrome, Down Syndrome, Turner Syndrom e (Hospital Nacional Edgardo Rebagliati …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… their function in hematopoiesis and leukemia. Tychele Turner, Washington University in St. Louis The Turner Lab's initial planned contribution is focused on the …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … Ferguson R, Scurr I, Ours … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
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… Exploring the Microbiome and Its Connection to Metabolic Syndrome …