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DLG4-related synaptopathy: a new rare brain disorder.

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Title: DLG4-related synaptopathy: a new rare brain disorder.
Authors: Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands., Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom., Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy., Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy., Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA., Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom., Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA., Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA., Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA., Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.
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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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 33597769
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: DLG4-related synaptopathy: a new rare brain disorder.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Rodríguez-Palmero+A%22">Rodríguez-Palmero A</searchLink>; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Boerrigter+MM%22">Boerrigter MM</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gómez-Andrés+D%22">Gómez-Andrés D</searchLink>; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aldinger+KA%22">Aldinger KA</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Marcos-Alcalde+Í%22">Marcos-Alcalde Í</searchLink>; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain.<br /><searchLink fieldCode="AU" term="%22Popp+B%22">Popp B</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Everman+DB%22">Everman DB</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Lovgren+AK%22">Lovgren AK</searchLink>; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Arpin+S%22">Arpin S</searchLink>; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.<br /><searchLink fieldCode="AU" term="%22Bahrambeigi+V%22">Bahrambeigi V</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bisgaard+AM%22">Bisgaard AM</searchLink>; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.<br /><searchLink fieldCode="AU" term="%22Bjerregaard+VA%22">Bjerregaard VA</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Challman+TD%22">Challman TD</searchLink>; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Coubes+C%22">Coubes C</searchLink>; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France.<br /><searchLink fieldCode="AU" term="%22de+Man+SA%22">de Man SA</searchLink>; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Dye+TJ%22">Dye TJ</searchLink>; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.<br /><searchLink fieldCode="AU" term="%22Elmslie+F%22">Elmslie F</searchLink>; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Feuk+L%22">Feuk L</searchLink>; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22García-Miñaúr+S%22">García-Miñaúr S</searchLink>; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gertler+T%22">Gertler T</searchLink>; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Giorgio+E%22">Giorgio E</searchLink>; Department of Medical Sciences, University of Turin, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Gruchy+N%22">Gruchy N</searchLink>; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haldeman-Englert+CR%22">Haldeman-Englert CR</searchLink>; Mission Fullerton Genetics Center, Asheville, NC, USA.<br /><searchLink fieldCode="AU" term="%22Haukanes+BI%22">Haukanes BI</searchLink>; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Hoyer+J%22">Hoyer J</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Soller+MJ%22">Soller MJ</searchLink>; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kushary+S%22">Kushary S</searchLink>; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Kvarnung+M%22">Kvarnung M</searchLink>; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Landau+YE%22">Landau YE</searchLink>; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Leppig+KA%22">Leppig KA</searchLink>; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kleinendorst+L%22">Kleinendorst L</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22MacKenzie+A%22">MacKenzie A</searchLink>; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Mandrile+G%22">Mandrile G</searchLink>; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy.<br /><searchLink fieldCode="AU" term="%22Mendelsohn+BA%22">Mendelsohn BA</searchLink>; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Moghadasi+S%22">Moghadasi S</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Morton+JE%22">Morton JE</searchLink>; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Moutton+S%22">Moutton S</searchLink>; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.<br /><searchLink fieldCode="AU" term="%22Müller+AJ%22">Müller AJ</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22O'Leary+M%22">O'Leary M</searchLink>; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pacio-Míguez+M%22">Pacio-Míguez M</searchLink>; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Palomares-Bralo+M%22">Palomares-Bralo M</searchLink>; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Parikh+S%22">Parikh S</searchLink>; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Pode-Shakked+B%22">Pode-Shakked B</searchLink>; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Repnikova+E%22">Repnikova E</searchLink>; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Revah-Politi+A%22">Revah-Politi A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ross+MJ%22">Ross MJ</searchLink>; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, 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="%22Sarrazin+E%22">Sarrazin E</searchLink>; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique.<br /><searchLink fieldCode="AU" term="%22Savatt+JM%22">Savatt JM</searchLink>; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.<br /><searchLink fieldCode="AU" term="%22Schlüter+A%22">Schlüter A</searchLink>; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Schönewolf-Greulich+B%22">Schönewolf-Greulich B</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Shad+Z%22">Shad Z</searchLink>; Cook Children's Medical Center Genetics, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22Shaw-Smith+C%22">Shaw-Smith C</searchLink>; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Shieh+JT%22">Shieh JT</searchLink>; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Shohat+M%22">Shohat M</searchLink>; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Thiese+H%22">Thiese H</searchLink>; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Mau-Them+FT%22">Mau-Them FT</searchLink>; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22van+Bon+B%22">van Bon B</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Burgt+I%22">van de Burgt I</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Laar+IMBH%22">van de Laar IMBH</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Drie+E%22">van Drie E</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haelst+MM%22">van Haelst MM</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Ravenswaaij-Arts+CM%22">van Ravenswaaij-Arts CM</searchLink>; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Verdura+E%22">Verdura E</searchLink>; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Waldmüller+S%22">Waldmüller S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Whiting+S%22">Whiting S</searchLink>; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Prada+CE%22">Prada CE</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.<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="%22Dobyns+WB%22">Dobyns WB</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Reiter+SF%22">Reiter SF</searchLink>; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Gómez-Puertas+P%22">Gómez-Puertas P</searchLink>; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pujol+A%22">Pujol A</searchLink>; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
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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 May; Vol. 23 (5), pp. 888-899. <i>Date of Electronic Publication: </i>2021 Feb 17.
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