Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

Autor: Reynolds HM; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA., Wen T; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Farrell A; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Mao R; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Moore B; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Boyden SE; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Bayrak-Toydemir P; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Nicholas TJ; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Rynearson S; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Holt C; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Miller C; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Noble K; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Bentley D; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84112, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA., Ostrander B; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA., Manberg S; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah 84108, USA., Shayota BJ; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA., Jenkins SM; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Dec 28; Vol. 8 (7). Date of Electronic Publication: 2022 Dec 28 (Print Publication: 2022).

Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

Autor: Salas-Huetos A; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, 48149, Münster, Germany., Wyrwoll MJ; Institute of Reproductive Genetics, University of Münster, 48149, Münster, Germany.; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, 48149, Münster, Germany., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, 48149, Münster, Germany., Lopes AM; i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135, Porto, Portugal.; IPATIMUP-Instituto de Patologia e Imunologia Molecular da Universidade do Porto, 4200-135, Porto, Portugal., Gonçalves J; Departamento de Genética Humana, Instituto Nacional de Saúde Dr Ricardo Jorge, 1649-016, Lisbon, Portugal.; ToxOmics-Centro de Toxicogenómica e Saúde Humana, Nova Medical School, 1169-056, Lisbon, Portugal., Boyden SE; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA.; Utah Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Wöste M; Institute of Medical Informatics, University of Münster, 48149, Munster, Germany., Hotaling JM; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA.; Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA., Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, 97006, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, 97006, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA., Carrell DT; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA.; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Aston KI; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA. ki.aston@hsc.utah.edu.

Publikováno v: Human genetics [Hum Genet] 2021 Jan; Vol. 140 (1), pp. 229.

Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2.

Autor: Naranjo AN; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Bandara G; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Bai Y; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Smelkinson MG; Biological Imaging Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Tobío A; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Komarow HD; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Boyden SE; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Metcalfe DD; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Olivera A; Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Electronic address: ana.olivera@nih.gov.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2020 Nov; Vol. 140 (11), pp. 2210-2220.e5. Date of Electronic Publication: 2020 Mar 25.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

Autor: Lalaoui N; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia. lalaoui@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia. lalaoui@wehi.edu.au., Boyden SE; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. steven.boyden@genetics.utah.edu., Oda H; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wood GM; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Stone DL; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Chau D; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia., Liu L; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Stoffels M; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kratina T; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia., Lawlor KE; Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, Victoria, Australia.; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia., Zaal KJM; Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Hoffmann PM; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Etemadi N; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Shield-Artin K; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Biben C; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Tsai WL; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Blake MD; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Yang D; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Anderton H; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Silke N; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia., Wachsmuth L; Institute for Genetics & Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine (CMMC), University of Cologne, Cologne, Germany., Zheng L; Molecular Development of the Immune System Section, Laboratory of Immune System Biology; Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Moura NS; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Beck DB; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gutierrez-Cruz G; Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Ombrello AK; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pinto-Patarroyo GP; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kueh AJ; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Herold MJ; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Hall C; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia., Wang H; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Chae JJ; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dmitrieva NI; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., McKenzie M; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Light A; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia., Barham BK; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Jones A; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Romeo TM; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gross AJ; Division of Rheumatology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA., Shum AK; Division of Pulmonary and Critical Care, Department of Medicine, University of California San Francisco, San Francisco, CA, USA., Hawkins ED; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Masters SL; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Lenardo MJ; Molecular Development of the Immune System Section, Laboratory of Immune System Biology; Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Boehm M; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Pasparakis M; Institute for Genetics & Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine (CMMC), University of Cologne, Cologne, Germany., Voss AK; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Gadina M; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. kastnerd@mail.nih.gov., Silke J; The Walter and Eliza Hall Institute, Parkville, Victoria, Australia. silke@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia. silke@wehi.edu.au.

Publikováno v: Nature [Nature] 2020 Jan; Vol. 577 (7788), pp. 103-108. Date of Electronic Publication: 2019 Dec 11.

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.

Autor: Gourh P; NIAMS and National Human Genome Research Institute, NIH, Bethesda, Maryland., Remmers EF; National Human Genome Research Institute, NIH, Bethesda, Maryland., Boyden SE; National Human Genome Research Institute, NIH, Bethesda, Maryland., Alexander T; NIAMS, NIH, Bethesda, Maryland., Morgan ND; Johns Hopkins University School of Medicine, Baltimore, Maryland., Shah AA; Johns Hopkins University School of Medicine, Baltimore, Maryland., Mayes MD; University of Texas McGovern Medical School, Houston., Doumatey A; National Human Genome Research Institute, NIH, Bethesda, Maryland., Bentley AR; National Human Genome Research Institute, NIH, Bethesda, Maryland., Shriner D; National Human Genome Research Institute, NIH, Bethesda, Maryland., Domsic RT; University of Pittsburgh, Pittsburgh, Pennsylvania., Medsger TA Jr; University of Pittsburgh, Pittsburgh, Pennsylvania., Steen VD; Georgetown University School of Medicine, Washington, DC., Ramos PS; Medical University of South Carolina, Charleston., Silver RM; Medical University of South Carolina, Charleston., Korman B; Northwestern University, Feinberg School of Medicine, Chicago, Illinois., Varga J; Northwestern University, Feinberg School of Medicine, Chicago, Illinois., Schiopu E; University of Michigan, Ann Arbor., Khanna D; University of Michigan, Ann Arbor., Hsu V; Robert Wood Johnson University, New Brunswick, New Jersey., Gordon JK; Hospital for Special Surgery, New York, New York., Saketkoo LA; Tulane University School of Medicine, New Orleans, Louisiana., Gladue H; Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, North Carolina., Kron B; University of California, San Francisco., Criswell LA; University of California, San Francisco., Derk CT; University of Pennsylvania, Philadelphia., Bridges SL Jr; University of Alabama at Birmingham., Shanmugam VK; The George Washington University, Washington, DC., Kolstad KD; Stanford University School of Medicine, Stanford, California., Chung L; Stanford University School of Medicine, Stanford, California, and Palo Alto VA Health Care System, Palo Alto, California., Jan R; University of Chicago, Pritzker School of Medicine, Chicago, Illinois., Bernstein EJ; New York Presbyterian Hospital, Columbia University, New York, New York., Goldberg A; New York University Langone Medical Center, New York, New York., Trojanowski M; Boston University School of Medicine, Boston, Massachusetts., Kafaja S; David Geffen School of Medicine, University of California, Los Angeles., Maksimowicz-McKinnon KM; Henry Ford Health System, Detroit, Michigan., Mullikin JC; National Human Genome Research Institute, NIH Intramural Sequencing Center, Rockville, Maryland., Adeyemo A; National Human Genome Research Institute, NIH, Bethesda, Maryland., Rotimi C; National Human Genome Research Institute, NIH, Bethesda, Maryland., Boin F; University of California, San Francisco., Kastner DL; National Human Genome Research Institute, NIH, Bethesda, Maryland., Wigley FM; Johns Hopkins University School of Medicine, Baltimore, Maryland.

Publikováno v: Arthritis & rheumatology (Hoboken, N.J.) [Arthritis Rheumatol] 2018 Oct; Vol. 70 (10), pp. 1654-1660. Date of Electronic Publication: 2018 Aug 29.