المؤلفون: Merritt JK; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Fang X; Department of Pathology, Henry Ford Health System, Detroit, MI 48202, USA.; Greenwood Genetic Center, Greenwood, SC 29646, USA., Caylor RC; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Neul JL; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

المصدر: Genes [Genes (Basel)] 2024 May 08; Vol. 15 (5). Date of Electronic Publication: 2024 May 08.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Rett Syndrome*/genetics , Rett Syndrome*/pathology , X Chromosome Inactivation*/genetics , Methyl-CpG-Binding Protein 2*/genetics , Severity of Illness Index*, Humans ; Female ; Child ; Chromosomes, Human, X/genetics ; Genotype ; Child, Preschool ; Adolescent ; Adult ; Male ; Alleles ; Young Adult

المؤلفون: Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Rastin C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Demain L; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Dominguez-Garrido E; Rioja Health Foundation, La Rioja, Spain., Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Houge SD; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway., DuPont BR; Greenwood Genetic Center, Greenwood, SC., Fee T; Greenwood Genetic Center, Greenwood, SC., Fletcher RS; Greenwood Genetic Center, Greenwood, SC., Gokhale D; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Haukanes BI; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway., Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Hilton BA; Greenwood Genetic Center, Greenwood, SC., Jenkinson S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Lee JA; Greenwood Genetic Center, Greenwood, SC., Louie RJ; Greenwood Genetic Center, Greenwood, SC., Motazacker MM; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Plomp A; Department of Clinical Genetics, AMC, Amsterdam, The Netherlands., van der Laan L; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van der Smagt J; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, SC., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Skinner SA; Greenwood Genetic Center, Greenwood, SC., Friez MJ; Greenwood Genetic Center, Greenwood, SC., Campbell C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Tedder ML; Greenwood Genetic Center, Greenwood, SC., Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101075. Date of Electronic Publication: 2024 Jan 18.

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

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: DNA Methylation*/genetics , Rare Diseases*/genetics , Rare Diseases*/diagnosis , Genetic Testing*/standards , Genetic Testing*/methods, Humans ; Female ; Promoter Regions, Genetic/genetics ; Male ; DNA Copy Number Variations/genetics ; Child ; Adult ; Child, Preschool ; Genomic Imprinting/genetics

المؤلفون: Wang J; Greenwood Genetic Center, Greenwood, SC, USA., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Richardson E; Greenwood Genetic Center, Greenwood, SC, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Curry CJ; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA., Tarpey PS; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Maystadt I; Centre de Génétique Humaine, Institute de Pathologie et de Génétique, Gosselies, BE, Charleroi, Belgium., Keren B; Genetic Department, La Pitie-Salpetriere Hospital, APHP.Sorbonne Universite, Paris, France., Dixon JW; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand., Skinner C; Greenwood Genetic Center, Greenwood, SC, USA., Stapleton R; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand., Ruaud L; Department of Genetics, APHP.Nord, Robert Debré Hospital, Paris, FR and University of Paris, UMR 1141NEURODIDEROT, INSERM, Paris, France., Gumus E; Medical Genetics Department, Mugla Sitki Kocman University, Mugla, Turkey., Lakeman P; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands., Alders M; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA., Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA., Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA. res@ggc.org.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Dec 01. Date of Electronic Publication: 2023 Dec 01.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

المؤلفون: Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom., Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom., Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran Mau-Them F; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lemaitre B; Global Health Institute, School of Life Sciences and., Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada., Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and., Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.

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

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: Ceramides*/metabolism , Sphingolipids*/genetics , Sphingolipids*/metabolism, Humans ; Homeostasis ; Mutation

المؤلفون: Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Toutain A; Department of Medical Genetics, Centre Hospitalier Universitaire, Tours, France., Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 144-159. Date of Electronic Publication: 2022 Oct 27.

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

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

مواضيع طبية MeSH: Genes, X-Linked*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics, Humans ; Mutation ; Exome ; Pedigree

المؤلفون: Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Pranckeviciene E; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy., Biamino E; Department of Pediatrics, University of Turin, Turin, Italy., Palomares Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Clarke A; Cardiff University School of Medicine, Cardiff, UK., DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Elting MW; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Faivre L; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA., Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA., Cherick F; Genetic Medical Center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia., Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada., Santen GWE; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy., John MS; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, Dijon, France., Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy., van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA., Vos N; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, South Carolina, USA., Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia., Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada., Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom., Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, Australia.; South Australian Health and Medical Research Institute, Adelaide, Australia., Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada., Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia., Bend EG; PreventionGenetics, Marshfield, Wisconsin, USA., Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada., Campion D; INSERM U1245, Faculté de Médecine, Rouen, France., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Esber N; KAT6A Foundation, New York, New York, USA., Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA., Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA., Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France., Heron D; AP-HP, Département de Génétique Médicale, Groupe Hospitalier Pitié Salpétrière, Paris, France., Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada., McNeill A; Department of Neuroscience, University of Sheffield, UK, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, Manitoba, Canada., Schwartz C; Greenwood Genetic Center, Greenwood, South Carolina, USA., Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Vincent M; Service de génétique Médicale, CHU Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

المصدر: Human mutation [Hum Mutat] 2022 Nov; Vol. 43 (11), pp. 1609-1628. Date of Electronic Publication: 2022 Aug 21.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation*/genetics , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/genetics, CpG Islands/genetics ; DNA, Intergenic ; Epigenesis, Genetic ; Humans ; Syndrome

المؤلفون: Cooley Coleman JA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA., Bend R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Annese F; Greenwood Genetic Center, Greenwood, South Carolina, USA., Stallworth J; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sanofi, Bridgewater, New Jersey, USA., Worthington J; Greenwood Genetic Center, Greenwood, South Carolina, USA., Buchanan CB; Greenwood Genetic Center, Greenwood, South Carolina, USA., Everman DB; Greenwood Genetic Center, Greenwood, South Carolina, USA., Skinner S; Greenwood Genetic Center, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Spellicy CJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Myriad Genetics, Salt Lake City, Utah, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2988-2998. Date of Electronic Publication: 2022 Aug 04.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: Rett Syndrome*/diagnosis , Rett Syndrome*/genetics, Methyl-CpG-Binding Protein 2/*genetics, DNA ; Female ; Humans ; Male ; Mosaicism ; Mutation ; Phenotype

المؤلفون: Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., Zhang J; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; State Key Laboratory of Bio-Organic and Natural Products Chemistry, Research Center of Chemical Kinomics, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Zeng X; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Robert SM; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Josiah SS; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Kiziltug E; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Denommé-Pichon AS; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Hao LT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Li H; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Louie RJ; Greenwood Genetic Center, Greenwood, SC., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Torti E; GeneDx, Gaithersburg, MD., Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., McWalter K; GeneDx, Gaithersburg, MD., Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom; Centre for Trials Research, Cardiff University, Cardiff, United Kingdom., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Ilves P; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia., Wentzensen IM; GeneDx, Gaithersburg, MD., Barr EE; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA., Guihard SH; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Groupe de Recherche Clinique, Déficience Intellectuelle et Autisme, Sorbonne University, Paris, France., Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Genomic Informatics Group, University of Southampton, Southampton, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Rio M; Developmental Brain Disorders laboratory, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Necker Enfants Malades Hospital, APHP, Paris, France., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University New York, NY., Wilson A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Quinquis D; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Bréhéret F; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Retterer K; GeneDx, Gaithersburg, MD., Lindenbaum P; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Scalais E; Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Rhodes L; GeneDx, Gaithersburg, MD., Stouffs K; Neurogenetics Research Group, Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan, Brussels, Belgium., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Milla SS; Department of Radiology and Imaging Sciences, School of Medicine, Emory University, Atlanta, GA., Jaykumar AB; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX., Cobb MH; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX., Panchagnula S; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Duy PQ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Vincent M; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Gilbert-Dussardier B; Service de Génétique, CHU Poitiers, Poitiers, France., Le Guillou X; Service de Génétique, CHU Poitiers, Poitiers, France., Audebert-Bellanger S; Génétique Médicale, CHRU Brest, Brest, France., Odent S; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Schmitt S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Boisseau P; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Toutain A; Unité de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, France; Unité Mixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France., Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Pasquier L; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Redon R; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Friez MJ; Greenwood Genetic Center, Greenwood, SC., Pérez-Peña H; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom., Akhtar Rizvi SR; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom; Centre for Advanced Research Computing, University College London, London, United Kingdom., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland., Schwartz CE; Greenwood Genetic Center, Greenwood, SC., Martínez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kahle KT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; Department of Cellular and Molecular Physiology, Yale School of Medicine, Yale University, New Haven, CT; NIH-Yale Centers for Mendelian Genomics, Yale School of Medicine, Yale University, New Haven, CT; Yale Stem Cell Center, Yale School of Medicine, Yale University, New Haven, CT. Electronic address: kahle.kristopher@mgh.harvard.edu., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1941-1951. Date of Electronic Publication: 2022 Jun 09.

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

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: Mental Retardation, X-Linked*/genetics , Protein Serine-Threonine Kinases*/chemistry , Protein Serine-Threonine Kinases*/genetics , Symporters*/metabolism, Brain/abnormalities ; Catalytic Domain/genetics ; Hemizygote ; Humans ; Loss of Function Mutation ; Male ; Maternal Inheritance/genetics ; Mutation, Missense ; Phosphorylation

المؤلفون: Fang X; Greenwood Genetic Center, Greenwood, South Carolina, USA., Butler KM; Greenwood Genetic Center, Greenwood, South Carolina, USA., Abidi F; Greenwood Genetic Center, Greenwood, South Carolina, USA., Gass J; Florida Cancer Specialists & Research Institute, Fort Myers, FL, USA., Beisang A; Gillette Children's Specialty Healthcare, St. Paul, Minnesota, USA., Feyma T; Gillette Children's Specialty Healthcare, St. Paul, Minnesota, USA., Ryther RC; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Standridge S; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA., Heydemann P; Rush University Medical Center, Chicago, Illinois, USA., Jones M; Oakland Children's Hospital, UCSF, Oakland, California, USA., Haas R; University of California San Diego, San Diego, California, USA., Lieberman DN; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Marsh ED; Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania, USA., Benke TA; University of Colorado School of Medicine, Children's Hospital Colorado-Aurora, Denver, Colorado, USA., Skinner S; Greenwood Genetic Center, Greenwood, South Carolina, USA., Neul JL; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville TN., Percy AK; The University of Alabama at Birmingham, Birmingham, Alabama, USA., Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Caylor RC; Greenwood Genetic Center, Greenwood, South Carolina, USA.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 May; Vol. 10 (5), pp. e1917. Date of Electronic Publication: 2022 Mar 23.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Rett Syndrome*/genetics, Genotype ; Humans ; Mutation ; Phenotype ; X Chromosome Inactivation

المؤلفون: Wang J; Greenwood Genetic Center, Greenwood, SC, USA., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Richardson E; Greenwood Genetic Center, Greenwood, SC, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Curry CJ; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA., Tarpey PS; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Maystadt I; Centre de Génétique Humaine, Institute de Pathologie et de Génétique, Gosselies, BE, Charleroi, Belgium., Keren B; Genetic Department, La Pitie-Salpetriere Hospital, APHP.Sorbonne Universite, Paris, France., Dixon JW; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand., Skinner C; Greenwood Genetic Center, Greenwood, SC, USA., Stapleton R; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand., Ruaud L; Department of Genetics, APHP.Nord, Robert Debré Hospital, Paris, FR and University of Paris, UMR 1141NEURODIDEROT, INSERM, Paris, France., Gumus E; Medical Genetics Department, Mugla Sitki Kocman University, Mugla, Turkey., Lakeman P; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands., Alders M; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA., Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA., Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA. res@ggc.org.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Apr; Vol. 30 (4), pp. 420-427. Date of Electronic Publication: 2022 Jan 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autistic Disorder*/genetics , Intellectual Disability*/genetics, DNA Methylation ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Female ; Genes, X-Linked ; Humans