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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 …
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
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 …
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.
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 …
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: …
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 …
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 …