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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

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Title: Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Authors: Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Guzmán-Vega FJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Jackson A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Ramakrishnan R; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Peña-Guerra KA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Paassen BW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kievit A; 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., Allen NM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Kehoe CM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Robinson HK; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Pang L; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Lauronen L; Department of Clinical Neurophysiology, New Children´s Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland., Määttä T; Disability Services, Joint Authority for Kainuu, Kajaani, Finland., Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Leal SM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, London, Bucks, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Thies J; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Lara-Taranchenko Y; Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, Ecuador., Chinn IK; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Garza-Flores A; Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., McGlothlin J; Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., Yang L; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Huang S; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Wang X; Cipher Gene Ltd, Beijing, China., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Rosso G; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Lin X; Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Mohammed S; Clinical Genetics, Guy's and St Thomas NHS Foundation Trust, London, UK., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Mirzaa GM; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Elting MW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Polstra AM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Schenck L; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA., Ruzhnikov MRZ; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA., Vetro A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Koboldt DC; Nationwide Children's Hospital, Columbus, OH, USA., Mosher TM; Nationwide Children's Hospital, Columbus, OH, USA., Pastore MT; Nationwide Children's Hospital, Columbus, OH, USA., McBride KL; Nationwide Children's Hospital, Columbus, OH, USA., Peng J; Xiangya Hospital of Central South University, Changsha, China., Pan Z; Xiangya Hospital of Central South University, Changsha, China., Willemsen M; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Koning S; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Turnpenny PD; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., de Vries BBA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Lees M; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Braddock SR; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Klemp KC; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Vansenne F; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Gijn ME; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., Quindipan C; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., Deardorff MA; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Departments of Pathology and Pediatrics, Keck School of Medicine of the, University of Southern California, Los Angeles, CA, USA., Hamm JA; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Putnam AM; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Baud R; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Walsh L; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Neurology, Indiana University School of Medicine and Riley Hospital for Children, Indianapolis, IN, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple St. Children's Hospital and Our Lady's Children's Hospital, Crumlin, Dublin, Ireland., Baptista J; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Person RE; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Crunk A; GeneDx, Gaithersburg, MD, USA., Keller-Ramey J; GeneDx, Gaithersburg, MD, USA., Reich A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., Alders M; Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
Corporate Authors: Genomics England Research Consortium
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2122-2137. Date of Electronic Publication: 2021 Aug 03.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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  Data: Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Weerts+MJA%22">Weerts MJA</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lanko+K%22">Lanko K</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Guzmán-Vega+FJ%22">Guzmán-Vega FJ</searchLink>; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Jackson+A%22">Jackson A</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Ramakrishnan+R%22">Ramakrishnan R</searchLink>; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Cardona-Londoño+KJ%22">Cardona-Londoño KJ</searchLink>; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Peña-Guerra+KA%22">Peña-Guerra KA</searchLink>; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22van+Bever+Y%22">van Bever Y</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Paassen+BW%22">van Paassen BW</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kievit+A%22">Kievit A</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Slegtenhorst+M%22">van Slegtenhorst M</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Allen+NM%22">Allen NM</searchLink>; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Kehoe+CM%22">Kehoe CM</searchLink>; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Robinson+HK%22">Robinson HK</searchLink>; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Pang+L%22">Pang L</searchLink>; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Banu+SH%22">Banu SH</searchLink>; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.<br /><searchLink fieldCode="AU" term="%22Zaman+M%22">Zaman M</searchLink>; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Järvelä+I%22">Järvelä I</searchLink>; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Lauronen+L%22">Lauronen L</searchLink>; Department of Clinical Neurophysiology, New Children´s Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Määttä+T%22">Määttä T</searchLink>; Disability Services, Joint Authority for Kainuu, Kajaani, Finland.<br /><searchLink fieldCode="AU" term="%22Schrauwen+I%22">Schrauwen I</searchLink>; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Leal+SM%22">Leal SM</searchLink>; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ruivenkamp+CAL%22">Ruivenkamp CAL</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Peeters-Scholte+CMPCD%22">Peeters-Scholte CMPCD</searchLink>; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Galehdari+H%22">Galehdari H</searchLink>; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Mazaheri+N%22">Mazaheri N</searchLink>; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Sisodiya+SM%22">Sisodiya SM</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, London, Bucks, UK.<br /><searchLink fieldCode="AU" term="%22Harrison+V%22">Harrison V</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Sun+A%22">Sun A</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Thies+J%22">Thies J</searchLink>; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pedroza+LA%22">Pedroza LA</searchLink>; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Lara-Taranchenko+Y%22">Lara-Taranchenko Y</searchLink>; Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, Ecuador.<br /><searchLink fieldCode="AU" term="%22Chinn+IK%22">Chinn IK</searchLink>; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Garza-Flores+A%22">Garza-Flores A</searchLink>; Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22McGlothlin+J%22">McGlothlin J</searchLink>; Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22Yang+L%22">Yang L</searchLink>; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Huang+S%22">Huang S</searchLink>; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Cipher Gene Ltd, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Jewett+T%22">Jewett T</searchLink>; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Rosso+G%22">Rosso G</searchLink>; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Lin+X%22">Lin X</searchLink>; Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Mohammed+S%22">Mohammed S</searchLink>; Clinical Genetics, Guy's and St Thomas NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Merritt+JL+2nd%22">Merritt JL 2nd</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Scheck+J%22">Scheck J</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Elting+MW%22">Elting MW</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Polstra+AM%22">Polstra AM</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schenck+L%22">Schenck L</searchLink>; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ruzhnikov+MRZ%22">Ruzhnikov MRZ</searchLink>; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Vetro+A%22">Vetro A</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Montomoli+M%22">Montomoli M</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Mosher+TM%22">Mosher TM</searchLink>; Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Pastore+MT%22">Pastore MT</searchLink>; Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22McBride+KL%22">McBride KL</searchLink>; Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Peng+J%22">Peng J</searchLink>; Xiangya Hospital of Central South University, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Pan+Z%22">Pan Z</searchLink>; Xiangya Hospital of Central South University, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Willemsen+M%22">Willemsen M</searchLink>; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koning+S%22">Koning S</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Turnpenny+PD%22">Turnpenny PD</searchLink>; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lees+M%22">Lees M</searchLink>; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Braddock+SR%22">Braddock SR</searchLink>; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Klemp+KC%22">Klemp KC</searchLink>; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Vansenne+F%22">Vansenne F</searchLink>; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gijn+ME%22">van Gijn ME</searchLink>; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Quindipan+C%22">Quindipan C</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Deardorff+MA%22">Deardorff MA</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Departments of Pathology and Pediatrics, Keck School of Medicine of the, University of Southern California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hamm+JA%22">Hamm JA</searchLink>; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Putnam+AM%22">Putnam AM</searchLink>; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Baud+R%22">Baud R</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Walsh+L%22">Walsh L</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Neurology, Indiana University School of Medicine and Riley Hospital for Children, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, Children's Health Ireland at Temple St. Children's Hospital and Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Baptista+J%22">Baptista J</searchLink>; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Person+RE%22">Person RE</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Crunk+A%22">Crunk A</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Keller-Ramey+J%22">Keller-Ramey J</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Reich+A%22">Reich A</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Elloumi+HZ%22">Elloumi HZ</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Haghshenas+S%22">Haghshenas S</searchLink>; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Arold+ST%22">Arold ST</searchLink>; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2122-2137. <i>Date of Electronic Publication: </i>2021 Aug 03.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s41436-021-01246-2
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