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News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… predictive potential of genomic medicine,” said Clesson Turner, M.D., director of NHGRI’s Reverse Phenotyping Core …
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, …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
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.
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: …
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 …
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 …
File
… 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 …
File
… 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 …
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… Exploring the Microbiome and Its Connection to Metabolic Syndrome …