المؤلفون: S Pouls, Charles E. Schwartz, Melanie May, RR Lebel, Roger E. Stevenson, Herbert A. Lubs

المصدر: Clinical Genetics. 61:139-145

مصطلحات موضوعية: Genetics, Biology, medicine.disease, Short stature, Exon, Aarskog Syndrome, FGD1, Obligate carrier, medicine, Missense mutation, medicine.symptom, Aarskog–Scott syndrome, Genetics (clinical), X chromosome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3b6d7a488ad5da810bc6bf34e5a85bad
https://doi.org/10.1034/j.1399-0004.2002.610209.x

المؤلفون: Tellerday J; Center for Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Black J; Center for Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Schuessler DC; Community Health Center, Gouverneur, New York, USA., Dosa NP; Center for Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Alcaraz W; Ambry Genetics, Aliso Viejo, California, USA., Lebel RR; Center for Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May 24, pp. e63722. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

المؤلفون: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India., Perillo DR; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Li S; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Johnson K; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Baris S; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Berger B; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Regan SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Pfennig CD; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., de Munnik S; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA., Jimenez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Karakoc-Aydiner E; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Ozen A; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Dmytrus J; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria., Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Corning K; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lebel RR; Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, 13210, USA., Le TL; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Amiel J; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France., Gordon CT; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, 1090, Austria.; St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, 1090, Austria., Girisha KM; 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., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. ashleigh.schaffer@case.edu.

المصدر: Nature communications [Nat Commun] 2024 Feb 22; Vol. 15 (1), pp. 1640. Date of Electronic Publication: 2024 Feb 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: RNA*/metabolism , Intellectual Disability*/genetics , Stilbenes* , Sulfonic Acids*, Humans ; Animals ; Mice ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; RNA Processing, Post-Transcriptional ; RNA Transport ; Mammals/genetics ; Nuclear Proteins/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism

المؤلفون: Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Battig MR; Center for Applied Genomics, and., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain., Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., March ME; Center for Applied Genomics, and., Hou C; Center for Applied Genomics, and., O'Connor N; Center for Applied Genomics, and., Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Harr MH; Center for Applied Genomics, and., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Towne M; Ambry Genetics, Aliso Viejo, California, USA., Li M; Invitae, San Francisco, California, USA., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom., Faghfoury H; University Health Network, Toronto, Ontario, Canada., Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA., Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA., Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA., Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France., Maas SM; Department of Human Genetics, Academic Medical Center, and., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Wilson A; New York Genome Center, New York, New York, USA., Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA., Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France., Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA., Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Arena A; Oasi Research Institute-IRCCS, Troina, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA., Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France., Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA., Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France., Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France., Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Halligan RK; Metabolic Clinic, and., Biswas S; Metabolic Clinic, and., Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia., Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA., Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jan 02; Vol. 134 (1). Date of Electronic Publication: 2024 Jan 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Spliceosomes*/genetics , Neurodevelopmental Disorders*/genetics, Humans ; Gene Regulatory Networks ; Mutation, Missense ; RNA Splicing ; RNA Splicing Factors/genetics ; Nuclear Proteins/genetics ; DNA Repair Enzymes/genetics

المؤلفون: Cousin MA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Veale EL; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK., Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Tripathi S; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Holden RG; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK., Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany., Beek G; Children's Hospital of Minnesota, Minneapolis, MN, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Bhambhani V; Children's Hospital of Minnesota, Minneapolis, MN, USA., Bialer M; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA., Bigoni S; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada., Carmichael J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK., Courtin T; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France., Cogne B; CHU Nantes, Service de génétique médicale, Nantes, France., Dabaj I; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France., Doummar D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France., Fazilleau L; Service de Néonatologie, CHU de Caen, Caen, France., Ferlini A; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Graham JM Jr; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Haack TB; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Juusola J; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kayani S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA., Keren B; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., Ketteler P; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Lambert L; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France., Latypova X; CHU Nantes, Service de génétique médicale, Nantes, France., Lebel RR; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leonardi E; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liew W; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Mardini S; Division of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, MN, USA., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Mignot C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., McLaughlin J; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA., Murgia A; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Nava C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Nizon M; CHU Nantes, Service de génétique médicale, Nantes, France., Ognibene D; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Runke CK; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Shatin, Hong Kong SAR., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MT, USA., Spranger S; Practice of Human Genetics, Bremen, Germany., Tan ES; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore., Taylor J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK., Trentesaux AS; Service de Néonatologie, CHU de Caen, Caen, France., Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Zadeh N; Genetics Center, Orange, CA, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, CA, USA., Urrutia R; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Human Research Center, Milwaukee, Wl, USA. mtzimmermann@mcw.edu.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu., Mathie A; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. a.a.mathie@kent.ac.uk.; School of Engineering, Arts, Science and Technology, University of Suffolk, Ipswich, UK. a.a.mathie@kent.ac.uk., Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.

المصدر: Genome medicine [Genome Med] 2022 Jun 13; Vol. 14 (1), pp. 62. Date of Electronic Publication: 2022 Jun 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Potassium Channels, Tandem Pore Domain*/genetics , Potassium Channels, Tandem Pore Domain*/metabolism, Genotype ; Humans ; Muscle Hypotonia ; Mutation ; Phenotype

المؤلفون: Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT

المصدر: American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2206.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Faundes V; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Goh S; School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Akilapa R; NW Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Bezuidenhout H; Clinical Unit of Medical Genetics and Genetic Counselling, Tygerberg Academic Hospital, Cape Town, South Africa.; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa., Bjornsson HT; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Bradley L; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Brady AF; NW Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier et Universitaire, Université de Franche-Comté, Besançon, France., Brunner H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bulk S; Centre de Génétique Humaine, CHU de Liège, Liège, Belgium., Canham N; NW Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Crown Street, Liverpool, UK., Cody D; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Elmslie F; SW Thames Regional Genetics Service, St George's, University of London, London, UK., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK., Gill H; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Hurst J; NE Thames Genetics Service, Great Ormond Street Hospital, London, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Northern General Hospital, Sheffield, UK., Julia S; Departments of Pathology, Neurosurgery, Oncopediatry, Genetics and Molecular Biology, Toulouse University Hospital, Toulouse, France., Lachlan K; Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton, UK., Lebel RR; Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, USA., Byler M; Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, USA., Gershon E; Department of Pediatrics, Yale New Haven Health, New Haven, CT, USA., Lemire E; Department of Pediatrics, Royal University Hospital, University of Saskatchewan, Saskatoon, SK, Canada., Gnazzo M; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Marchese A; Service de Pédiatrie, Centre Hospitalier Régional de Namur, Namur, Belgium., McEntagart M; SW Thames Regional Genetics Service, St George's, University of London, London, UK., McGaughran J; Genetic Health Queensland c/-Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Mizuno S; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Rodgers J; Genetic Health Queensland c/-Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Sasaki E; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Scalais E; Department of Pediatric Neurology, National Hospital, Luxembourg City, Luxembourg., Scurr I; Clinical Genetics, University Hospitals Bristol, Bristol, UK., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK., van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Benoit V; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jul; Vol. 23 (7), pp. 1202-1210. Date of Electronic Publication: 2021 Mar 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Sex Characteristics*, Histone Demethylases/*genetics, Abnormalities, Multiple ; DNA-Binding Proteins/genetics ; Face/abnormalities ; Female ; Genetic Association Studies ; Hematologic Diseases ; Humans ; Infant, Newborn ; Male ; Neoplasm Proteins/genetics ; Phenotype ; Vestibular Diseases

SCR Disease Name: Kabuki syndrome

المؤلفون: Rim J; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC. joshua.k.rim@gmail.com., Byler M; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Soldatos A; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Notarangelo L; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Leibovitch E; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Jacobson S; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Gorman M; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Lebel RR; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC., Werner K; From the Cleveland Clinic Foundation (J.R.), Neurological Institute, OH; SUNY Upstate Medical University Genetics Section (M.B., R.R.L.), Syracuse, NY; National Institute of Neurological Disorders and Stroke (NINDS) (A.S., E.L., S.J.), Bethesda; National Institute of Allergy and Infectious Diseases (NIAID) (L.N.), Bethesda, MD; Boston Children's Hospital (M.G.), Pediatric MS and Related Disorders and Neuro-immunology, MA; and Duke University (K.W.), Department of Pediatrics, Durham, NC.

المصدر: Neurology [Neurology] 2021 Feb 09; Vol. 96 (6), pp. e956-e959. Date of Electronic Publication: 2020 Nov 09.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia/*diagnosis , Diabetes Mellitus, Type 1/*congenital , Diarrhea/*diagnosis , Genetic Diseases, X-Linked/*diagnosis , Immune System Diseases/*congenital, Adult ; Cerebellar Ataxia/etiology ; Diabetes Mellitus/etiology ; Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 1/diagnosis ; Diabetes Mellitus, Type 1/genetics ; Diarrhea/complications ; Diarrhea/genetics ; Forkhead Transcription Factors/genetics ; Genetic Diseases, X-Linked/complications ; Genetic Diseases, X-Linked/genetics ; Humans ; Immune System Diseases/complications ; Immune System Diseases/diagnosis ; Immune System Diseases/genetics ; Liver Failure/etiology ; Magnetic Resonance Imaging ; Male ; Pedigree ; Exome Sequencing ; Young Adult

SCR Disease Name: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

المؤلفون: Jacobs EZ; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Brown K; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA., Byler MC; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA., D'haenens E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Henderson LB; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia, USA., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kanani F; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Lebel RR; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA., Millan F; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Oostra A; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Rhodes L; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Saenz M; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA., Seaver LH; Medical Genetics and Genomics, Spectrum Health Helen Devos Children's Hospital, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA., Si Y; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Vanlander A; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium., Vergult S; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.

المصدر: Clinical genetics [Clin Genet] 2021 Feb; Vol. 99 (2), pp. 259-268. Date of Electronic Publication: 2020 Nov 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Systematic Review

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Binding Proteins/*genetics , Nervous System Diseases/*genetics , Trans-Activators/*genetics, Adolescent ; Child ; Child, Preschool ; Cognition Disorders/genetics ; DNA Mutational Analysis ; Developmental Disabilities/genetics ; Female ; Humans ; Male ; Phenotype

المؤلفون: Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cox SG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA., Marchione D; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Joiner EF; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA., Wilson K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Janssen K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Nair D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA., Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Wadley A; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands., Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA., van de Kamp J; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands., Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Dean J; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK., Ross A; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK., Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA., Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA., Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA., Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands., Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France., Afenjar A; 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مؤلفون مشاركون: DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network

المصدر: Science advances [Sci Adv] 2020 Dec 02; Vol. 6 (49). Date of Electronic Publication: 2020 Dec 02 (Print Publication: 2020).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

مواضيع طبية MeSH: Histones*/genetics , Histones*/metabolism , Neurodegenerative Diseases*/genetics, Animals ; Forkhead Transcription Factors/genetics ; Germ-Line Mutation ; Humans ; Zebrafish/genetics ; Zebrafish/metabolism ; Zebrafish Proteins/metabolism