Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Autor: Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA., Childers MC; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marcello AJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Hazrati LN; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada., Al Amrani F; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Neurology, Department of Pediatrics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey., Nieto Y; Department of Basic Bio-Medical Sciences, European University of Madrid, Madrid, Spain., Gabriel MÁM; Department of Pediatrics, Puerta de Hierro-Majadahonda University Hospital, 28221 Madrid, Spain., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Sommers O; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Anderson K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Regnier M; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Seattle Children's Hospital, Seattle, WA 98105, USA.

Publikováno v: HGG advances [HGG Adv] 2023 Jun 15; Vol. 4 (3), pp. 100213. Date of Electronic Publication: 2023 Jun 15 (Print Publication: 2023).

Response to Hall et al.

Autor: Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA., Talbot JC; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu., Teets EM; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA., Previs S; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Martin BL; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Schatz UA; Human Genetics, Medical University, Innsbruck 6020, Austria., Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Almusafri F; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Al-Mulla M; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Harel T; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Dieterich K; Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France., Faure J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Rendu J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France., Latypova X; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Nickerson DA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Warshaw D; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Janssen PM; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Amacher SL; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1188-1189.

Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.

Autor: Blue EE; Division of Medical Genetics, University of Washington, Seattle, Washington., Yu CE; Division of Gerontology, University of Washington, Seattle, Washington.; Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington., Thornton TA; Department of Biostatistics, University of Washington, Seattle, Washington., Chapman NH; Division of Medical Genetics, University of Washington, Seattle, Washington., Kernfeld E; Department of Biostatistics, University of Washington, Seattle, Washington., Jiang N; Department of Biology, University of Washington, Seattle, Washington., Shively KM; Department of Pediatrics, University of Washington, Seattle, Washington., Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, Washington., Marvin CT; Department of Pediatrics, University of Washington, Seattle, Washington., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington.; Department of Genome Sciences, University of Washington, Seattle, Washington.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington., Bird TD; Division of Medical Genetics, University of Washington, Seattle, Washington.; Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington.; Department of Neurology, University of Washington, Seattle, Washington., Wijsman EM; Division of Medical Genetics, University of Washington, Seattle, Washington.; Department of Biostatistics, University of Washington, Seattle, Washington.; Department of Genome Sciences, University of Washington, Seattle, Washington.

Publikováno v: Genes, brain, and behavior [Genes Brain Behav] 2018 Jul; Vol. 17 (6), pp. e12429. Date of Electronic Publication: 2017 Nov 20.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Autor: Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Beck AE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marvin CT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Armenteros JR; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Nkinsi NT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Boyle EA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Berry MN; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Bocian M; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine, Orange, CA 92868 USA., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK., Uzielli ML; Genetics and Molecular Medicine, Dipartimento di Scienz, University of Florence, 6 Viale G. Pieraccini, 50139 Florence, Italy., Haldeman-Englert C; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1100 DD Amsterdam, the Netherlands., Kaplan P; Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kline AD; Department of Pediatrics, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA., Mercer CL; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK., Nowaczyk MJ; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Klein Wassink-Ruiter JS; Department of Genetics, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands., McPherson EW; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA., Moreno RA; Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de la Frontera, Temuco 4811230, Chile., Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA., Monteil A; Institut de Génomique Fonctionelle, LabEx 'Ion Channel Science and Therapeutics,' Centre National de la Recherche Scientifique UMR 5203, Montpelier F-34094, France; Département de Physiologie, Université Montpellier, Montpellier F34094, France; Institut National de la Santé et de la Recherche Médicale, Paris, France., Lory P; Institut de Génomique Fonctionelle, LabEx 'Ion Channel Science and Therapeutics,' Centre National de la Recherche Scientifique UMR 5203, Montpelier F-34094, France; Département de Physiologie, Université Montpellier, Montpellier F34094, France; Institut National de la Santé et de la Recherche Médicale, Paris, France., Tabor HK; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Mar 05; Vol. 96 (3), pp. 462-73. Date of Electronic Publication: 2015 Feb 12.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Autor: McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Beck AE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gildersleeve HI; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aracena MI; Genetic Unit, Hospital Dr. Luis Calvo Mackenna, Santiago 7500539, Chile; Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago 8330074, Chile., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Bitoun P; Service de Pédiatrie, Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris, Bondy 93143, France., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA., Clericuzio CL; Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Crow YJ; Manchester Academic Health Science Centre and University of Manchester, Manchester M13 9NT, UK., Curry CJ; Genetic Medicine Central California, University of California, San Francisco, Fresno, CA 93701, USA., Devriendt K; Centre for Human Genetics, University Hospitals KU Leuven, 3000 Leuven, Belgium., Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L12 2AP, UK., Gibson K; Genetic Health Service New Zealand, Christchurch Hospital, Christchurch 8140, New Zealand., Giovannucci Uzielli ML; Genetics and Molecular Medicine, Dipartimento di Scieze della Salute, University of Florence, Florence 50132, Italy., Graham JM Jr; Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Hall JG; Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Hecht JT; Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA., Heidenreich RA; Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Hurst JA; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK., Irani S; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK., Krapels IP; Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands., Leroy JG; Princess Elisabeth Children's Hospital, Ghent University Hospital, 9000 Ghent, Belgium., Mowat D; Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Plant GT; National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Robertson SP; Department of Women's and Children's Health, University of Otago, Dunedin 9054, New Zealand., Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Scott RH; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK., Seaver LH; Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, HI 96826, USA., Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK., Stewart H; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK., Stumpel C; Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands., Temel SG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa 16059, Turkey; Department of Histology & Embryology, Faculty of Medicine, Uludag University, Bursa 16059, Turkey; Department of Histology & Embryology, Faculty of Medicine, Near East University, TRNC Mersin 10, Turkey., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Whiteford M; Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK., Williams MS; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Tabor HK; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 May 01; Vol. 94 (5), pp. 734-44. Date of Electronic Publication: 2014 Apr 10.