Psychological impact during COVID-19 pandemic: A web-based cross-sectional study among students studying at College of Science and Technology (CST), Phuentsholing, Bhutan.

Autor: Tshering, Kezang¹ (AUTHOR) kezangtshe07@gmail.com, Dema, Kezang² (AUTHOR)

Publikováno v: PLoS ONE. 2/17/2022, Vol. 17 Issue 2, p1-11. 11p.

P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*

Autor: DiStefano, Marina, Webb, Ryan, McCurry, Hannah, McNulty Gray, Shannon, Tomar, Swati, Kopparapu, Prasad, Broeren, Eleanor, Tshering, Kezang, Beggs, Alan, Bertini, Enrico Silvio, D'Amico, Adele, Donkervoort, Sandra, Dowling, James, Fattori, Fabiana, Ferreiro, Ana, Genetti, Casie, Gonorazky, Hernan, Gorokhova, Svetlana, Lindy, Amanda, Medne, Livija, Pajusalu, Sander, Pelin, Katarina, Rendu, John, Vatta, Matteo, Winder, Tom, Yang, Hui, Yoon, Grace, Ceyhan-Birsoy, Ozge, Bönnemann, Carsten

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Autor: Broeren E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Gitau V; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Byrne A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Ajuyah P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Balzotti M; Myriad Women's Health, Myriad Genetics, South San Francisco, CA, United States., Berg J; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Bluske K; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Ambry Genetics, Aliso Viejo, CA, United States., Bowen BM; Biomedical Data Science, Stanford University, Palo Alto, CA, United States., Brown MP; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Buchanan A; Maternal-Fetal Medicine, Tufts Medical Center, Boston, MA, United States., Burns B; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Burns NJ; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, United States., Chandrasekhar A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, United States., Chawla A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Chong J; Pediatrics, University of Washington, Seattle, WA, United States.; Brotman-Baty Institute for Precision Medicine, Seattle, WA, United States., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, United States., Clause A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Neurology, Washington University in St. Louis, St. Louis, MO, United States., DiStefano M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Elnagheeb M; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Girod A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Goel H; Hunter Genetics, Waratah, NSW, Australia., Golden-Grant K; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Rady Children's Institute for Genomic Medicine, San Diego, CA, United States., Ha T; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Alliance between SA Pathology and UniSA, Centre for Cancer Biology, Adelaide, SA, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, MD, United States., Huang J; Ambry Genetics, Aliso Viejo, CA, United States., Hughes M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Jamuar S; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore., Kam S; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Kesari A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Koh AL; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Lassiter R; Ambry Genetics, Aliso Viejo, CA, United States., Leigh S; Biocuration, Genomics England Ltd, London, United Kingdom., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.; Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Lim JY; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Malhotra A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., McCurry H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Milewski B; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Hereditary Cancer Genetic Counselor, PreventionGenetics part of Exact Sciences, Marshfield, WI, United States., Moosa S; Division of Molecular Biology and Human Genetics Stellenbosch University, Cape Town, WC, South Africa.; Medical Genetics, Tygerberg Hospital, Cape Town, WC, South Africa., Murray S; The Jackson Laboratory, Bar Harbor, ME, United States., Owens E; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Palmer E; School of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW Australia., Palus B; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Patel M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Rajkumar R; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Ratliff J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Raymond FL; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Assis BDRR; Neurogenetics, University of São Paulo, São Paulo, SP Brazil., Sajan S; Cytogenetics, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI, United States.; Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States., Schlachetzki Z; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Alzheimer's Therapeutic Research Institute (ATRI), University of Southern California, San Diego, CA, United States., Schmidt S; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Clinical Genomics Research and Development , Natera, Inc, Austin, TX, United States., Stark Z; Australian Genomics, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Strom S; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Clinical Services, Fabric Genomics, Oakland, CA, United States., Taylor J; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Thaxton C; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Thrush D; Ambry Genetics, Aliso Viejo, CA, United States., Toro S; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Tshering K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Vasilevsky N; Data Collaboration Center, Critical Path Institute, Tucson, AZ, United States., Wayburn B; Ambry Genetics, Aliso Viejo, CA, United States., Webb R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Coffey AJ; Translational Research, Illumina Inc., Cambridge, Cambridgeshire, United Kingdom.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 20. Date of Electronic Publication: 2024 Nov 20.