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Akademický článek
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Autor:
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.
Publikováno v:
Nature communications [Nat Commun] 2024 Feb 22; Vol. 15 (1), pp. 1640. Date of Electronic Publication: 2024 Feb 22.
Autor:
Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Skinner C; Greenwood Genetic Center, Greenwood, SC., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC., Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA., Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada., McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC., Dobson A; Greenwood Genetic Center, Greenwood, SC., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands., Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany., Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Morrow MM; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100950. Date of Electronic Publication: 2023 Aug 05.
Autor:
Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA., Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium., Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France., Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA., Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA., Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA., Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA., Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA., Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1900-1910. Date of Electronic Publication: 2023 May 14.
Autor:
Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark., Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark., Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA., Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain., Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA., Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands., Potgieter ST; Laurentius Hospital, Roermond, the Netherlands., Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK., Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland., Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan., Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany., Spranger S; Practice of Human Genetics, Bremen, Germany., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia., Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia., Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA., Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK., Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA., Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany., Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France., Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca., Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.
Autor:
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org., Trajkova S; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Sebastiano MR; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Partridge EC; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Abidi FE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Anderson A; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Azadi A; Obestetrics and Gynecology Department, Golestan University of Medical Sciences, Gorgan, Iran., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland., Bartuli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Benech C; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Berkowitz JL; GeneDx, LLC, Gaithersburg, MD 20877, USA., Betti MJ; Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brusco A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Caron G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Chen Y; GeneDx, LLC, Gaithersburg, MD 20877, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Crenshaw MM; Pediatrics and Medical Genetics, University of Colorado, Aurora CO, USA., Cuisset L; Service de Médecine Génomique des Maladies de Système et d'Organe, Département Médico-Universitaire BioPhyGen, Hôpital Cochin, APHP, Université Paris Cité, Paris, France., Curry CJ; Genetic Medicine, UCSF/Fresno, Fresno, CA 93701, USA., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Nikagene Genetic Diagnostic Laboratory, Gorgan, Golestan, Iran., Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Douglas J; Boston Children's Hospital, Boston, MA, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Elloumi HZ; GeneDx, LLC, Gaithersburg, MD 20877, USA., Ermondi G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Faoucher M; Service de Génétique Moléculaire et Génomique, CHU, Rennes 35033, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes 35000, France., Farrow EG; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Fisher H; Children's Medical Center, Dallas, TX, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL 35806, USA., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Leadem BR; GeneDx, LLC, Gaithersburg, MD 20877, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First faculty of Medicine, Charles University, Prague, Czech Republic., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, Italy., Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., McEown M; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Meadows SK; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Medne L; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Meeks NJL; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Montgomery S; Division of Genetics and Metabolism, Children's Health, Dallas, TX, USA., Napier MP; GeneDx, LLC, Gaithersburg, MD 20877, USA., Natowicz M; Pathology & Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic, Cleveland, OH, USA., Newberry KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Nowak CB; Boston Children's Hospital, Boston, MA, USA., Noyes AG; GeneDx, LLC, Gaithersburg, MD 20877, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Pullano V; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Quélin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Rahimi-Aliabadi S; Department of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich 8032, Switzerland., Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Schwager CR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sellars EA; Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA., Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., Skraban C; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Umaña LA; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van der Crabben SN; Amsterdam University Medical Centers, Department of Clinical Genetics, Amsterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, VU University Amsterdam, Amsterdam, The Netherlands; Amsterdam Neuroscience, Amsterdam, The Netherlands., Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Rodan LH; Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA 02115, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 215-227. Date of Electronic Publication: 2022 Dec 30.
Autor:
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Truijen KMG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., van de Ven S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Bongers EMHF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., de Graaff-Herder L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., De Geus CM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands., Jansen PR; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands., Kerkhof J; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., McConkey H; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Patterson WG; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Dobson AT; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Sadikovic B; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada., Relator R; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Stumpel CTRM; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, Netherlands., Heijligers M; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lindy A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Zou F; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.
Publikováno v:
Translational psychiatry [Transl Psychiatry] 2022 Oct 01; Vol. 12 (1), pp. 421. Date of Electronic Publication: 2022 Oct 01.
Autor:
Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Panasenkava V; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Denommé-Pichon AS; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France., Keren B; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Mignot C; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Doco-Fenzy M; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France., Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mitchell WG; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA., Ozmore JR; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA., Juliette K; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Normand EA; GeneDx, Gaithersburg, MD 20877, USA., Granger L; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Petersen AK; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Au MG; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Matheny JP; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA., Chambers MK; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA., Fernández-Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Zollino M; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy., Marangi G; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Louie RJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Childers A; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Everman DB; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Isidor B; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France., Audebert-Bellanger S; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France., Odent S; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France., Bonneau D; Department of Medical Genetics, University Hospital of Angers and Mitovasc INSERM 1083, CNRS 6015, Angers 49000, France., Gilbert-Dussardier B; Medical Genetics, University Hospital, La Milétrie, BP 577, Poitiers 86021, France., Redon R; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France., Bézieau S; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Medical Genetics Service, University Hospital of Nantes, Nantes 44093, France., Laumonnier F; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Stoeckli ET; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Toutain A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Vuillaume ML; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3325-3340.
Autor:
Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Owosela B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Fleischer N; FDNA Inc., Boston, Massachusetts, USA., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Malonga B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Badoe E; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hussen DF; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Luk HM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Batista LC; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Lotz-Esquivel S; 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Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2939-2950. Date of Electronic Publication: 2020 Sep 27.