부산대학교 도서관

Boone PM; Erdin S; Mohamed A; Haghshenas S; Faour KNW; Kao E; Fu J; Auwerx C; Harripaul R; Jana B; Springer D; Hallstrom G; de Esch CEF; Denhoff E; Holmes L; Mohajeri K; Lemanski J; Kerkhof J; McConkey H; Rzasa J; McCune MJ; Levy MA; Grafstein J; Larson M; Wright Z; Beauchamp RL; Lucente D; Jamra RA; Agrawal N; Agrawal P; Andersen EF; Argilli E; Araiza R; Ballal S; Baxter MF; Bergant G; Bertsche A; Bhavsar R; Bortola DR; Bothe V; Brasch-Andersen C; MPhil DB; Bruel AL; Buchanan C; Burt ND; Carvalho LML; Chiriatti L; Cogne B; Collins R; Crunk A; Currall B; Delahaye-Duriez A; Delanne J; Denommé-Pichon AS; Devriendt K; Domingo A; Duncan L; Faivre L; Famularo L; Fulton A; Genetti C; Harel T; Havlovicova M; Higgs J; Houlier M; Iascone M; Immken L; Isidor B; Kaiser FJ; Karbone K; Kenna M; Khan A; Kimmig LK; Kleefstra T; Kraus EM; Krepischi ACV; Krey I; Ladda R; Lanoue L; Caignec CL; Lewis ZK; Lima G; Lynch SA; Macek M; Maier O; Maitz S; Male A; Malikova M; McKay V; Moldovan O; Monteil D; Oliveira MM; Munasinghe J; Nakamori S; Neuser S; Nizon M; Nuttle X; O'Keefe K; Orec L; Parenti I; Peterlin B; Pfundt R; Pouncey J; Radio FC; Robert L; Rodan L; Rosenberg-Fogler H; Rosenfeld JA; Safraou H; Salani M; Schliesske S; Seaby EG; Sell S; Eliot Shearer A; Sherr E; Shillington A; Siebold D; Sinnema M; Smith L; Stegmann APA; Stevens C; Stevens S; Surette E; Tartaglia M; Taylor JC; Thompson ML; Tørring PM; Mau Them FT; Tsoulaki O; Umair M; Vanhoutte E; Vincent M; Vitobello A; von Wintzingerode L; Watt A; Wayhelova M; Wentzensen IM; Wilson W; Wojcik MH; Yuan B; Zampino G; Srivastava S; Westphal DS; Riedhammer KM; Joyce E; Yadav R; Gusella J; Tai DJC; Sadikovic B; Pfeifer KE; Talkowski ME

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Luknárová R; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Joseph Maran MI; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Hentrich T; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Sagath L; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Sanden B; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Astuti G; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Batlle-Masó L; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain.; Beijer D; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Brechtmann F; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Caballero-Oteyza A; RESIST-Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany.; Dabad M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Denommé-Pichon AS; Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.; Doornbos C; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Eddafir Z; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Estévez-Arias B; Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Kilicarslan OA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Kolen IHM; Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Faculty of Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Kraß L; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Londhe S; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Helmholtz Association, Munich School for Data Science, Munich, Germany.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.; Maassen K; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Macken W; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Martínez-Delgado B; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), Madrid, Spain.; Mei D; Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Mertes C; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Mueller JS; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; Natera-de Benito D; Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Nelson I; Centre de Recherche en Myologie, Institut de Myologie, Inserm, Sorbonne Université, Paris, France.; Oud MM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Picó D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Raineri E; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Smal N; VIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium.; Steehouwer M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Steyaert W; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Van de Vondel L; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; van der Vries G; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Vitobello A; Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; T' Hoen PB; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Schulze-Hentrich J; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.; Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany. gagneur@in.tum.de.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

Woods E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; Holmes N; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Denommé-Pichon AS; Centre Hospitalier Regional Universitaire De Dijon, Dijon, France.; Vincent M; Centre Hospitalier Regional Universitaire De Dijon, Dijon, France.; Belova N; Clinical Genetics Service, Centre for Congenital Pathology, Moscow, Russia.; Gooch C; Washington University, St Louis, USA.; Isidor B; Centre Hospitalier Universitaire de Nantes, Nantes, France.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pavlidou E; Department of Paediatric Speech and Language Therapy, University of Ionnina, Ionnina, Greece.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Verhoeven VJM; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands.; Ververi A; Department of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.; Dixit A; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK.; Sarkar A; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK.; Legg R; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.; Reid E; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; The Bateson Centre, University of Sheffield, Sheffield, UK.

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

Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands. Electronic address: j.dekker.1@erasmusmc.nl.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98105, USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Mosca-Boidron AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Perrin L; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.; Auvin S; Université Paris-Cité, INSERM NeuroDiderot, APHP, Robert Debré University Hospital, Pediatric Neurology Department, CRMR Epilepsies rares, EpiCare member, Institut Universitaire de France, (IUF), Paris, France.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Gleeson JG; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Meave N; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Wallace C; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Ruggiero SM; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Parkville VIC 3052, Australia.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Prakash S; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA.; Neilson DE; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA; University of Arizona College of Medicine-Phoenix, Department of Child Health, 475 N. 5th Street, Phoenix, AZ 85004, USA.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Sferra A; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Aiello C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, Göttingen, Germany.; Kuranov AB; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Kaulfuss S; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Basit S; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Alluqmani M; Department of Neurology, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Almatrafi A; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Guimond C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Mohammed F; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Goel D; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India; Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), Jamia Hamdard, New Delhi 110062, India.; Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Centre de Référence des Maladies Neurogénétiques Rares, Strasbourg, France.; Bahena P; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Koparir A; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kolokotronis K; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Vona B; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.; Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kunstmann E; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Stolerman ES; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Mergler S; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, the Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Tajsharghi H; School of Health Sciences, Biomedicine Division, University of Skovde, Skovde, Sweden.; Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Cappuccio G; Department of Pediatrics -Neurology, Baylor College of Medicine, Houston, TX 77030, USA.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Swols DM; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Tekin M; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Upadia J; Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.; Martin DM; Departments of Pediatrics and Human Genetics, the University of Michigan Medical School, Ann Arbor, MI, USA.; Craven D; Department of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; van de Pol LA; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit location, Amsterdam, the Netherlands.; D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Margot H; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aronica E; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.; Anink J; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands.; Rogers SL; Department of Biology and Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC 27599, USA.; Slep KC; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA.; Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Luknárová R; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Joseph Maran MI; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Hentrich T; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Sagath L; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Sanden B; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Astuti G; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Batlle-Masó L; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain.; Beijer D; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Brechtmann F; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Caballero-Oteyza A; RESIST-Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany.; Dabad M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Denommé-Pichon AS; Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.; Doornbos C; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Eddafir Z; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Estévez-Arias B; Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Kilicarslan OA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Kolen IHM; Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Faculty of Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Kraß L; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Londhe S; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Helmholtz Association, Munich School for Data Science, Munich, Germany.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.; Maassen K; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Macken W; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Martínez-Delgado B; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), Madrid, Spain.; Mei D; Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Mertes C; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Mueller JS; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; Natera-de Benito D; Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Nelson I; Centre de Recherche en Myologie, Institut de Myologie, Inserm, Sorbonne Université, Paris, France.; Oud MM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Picó D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Raineri E; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Smal N; VIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium.; Steehouwer M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Steyaert W; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Van de Vondel L; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; van der Vries G; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Vitobello A; Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; T' Hoen PB; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Schulze-Hentrich J; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.; Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany. gagneur@in.tum.de.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Ghosh S; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Singh J; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Damseh NS; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; De Pace R; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Golding AE; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Jarnik M; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Thakran P; National Heart Lung and Blood Institute, National Institute of Health, Bethesda, MD 20892, USA.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Heitz J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Sumayli S; Department of Medicine, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Alqahtani M; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Cheema HA; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad 38000, Pakistan.; Kim J; Division of Medical Genetics, 3billion, Inc, Seoul 06160, South Korea.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston 02115, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Barkhordari E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Abu-Libdeh B; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Edvardson S; Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Patten SA; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Departement de Neurosciences, Université de Montréal, QC H3C 3J7, Canada.; Bonifacino JS; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence

European Journal of Human Genetics. 33(12):1585-1595

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; McConkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

European Journal of Human Genetics. 33(11):1422-1431

Viora-Dupont E; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France. eleonore.viora-dupont@chu-dijon.fr.; Delanne J; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Garde A; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Nambot S; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Colin E; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Bournez M; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Fauconnier-Fatus C; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Racine C; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Simao De Souza C; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Bernard C; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Maurer A; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Espitalier A; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Binquet C; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France.; Bouctot M; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France.; Humbert ML; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France.; Briffaut AS; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France.; Darmency V; Reference Center for Language and Learning Disorders, Dijon University Hospital, Dijon, France.; Plumet P; Reference Center for Language and Learning Disorders, Dijon University Hospital, Dijon, France.; Cotinaud-Ricou A; Reference Center for Language and Learning Disorders, Dijon University Hospital, Dijon, France.; Relin N; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Callier P; Chromosomal and Molecular Genetics Laboratory, Dijon University Hospital, Dijon, France.; Mosca-Boidron AL; Chromosomal and Molecular Genetics Laboratory, Dijon University Hospital, Dijon, France.; Marle N; Chromosomal and Molecular Genetics Laboratory, Dijon University Hospital, Dijon, France.; Tran Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Safraou H; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Philippe C; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Duffourd Y; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Bruel AL; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale, Dijon, France.; Thauvin-Robinet C; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Déficiences Intellectuelles de Causes Rares, Dijon, France.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France. laurence.faivre@chu-dijon.fr.

Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: Electronic Cited Medium: Internet ISSN: 2040-2392 (Electronic) NLM ISO Abbreviation: Mol Autism Subsets: MEDLINE; In Process

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian, 1964; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C.; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D.; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H.; Glass, Ian A.; Ward, Scott; Campeau, Philippe M.; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G.; Lupski, James R.; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G.

Nature Communications. 17(1)

Thauvin-Robinet C; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Garde A; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; Delanne J; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; Racine C; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; Rousseau T; Service de Gynécologie Obstétrique Médecine Fœtale et Stérilité Conjugale, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France.; Simon E; Service de Gynécologie Obstétrique Médecine Fœtale et Stérilité Conjugale, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France.; François M; Service de Chirurgie Pédiatrique, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France.; Moutton S; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; Sylvie O; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France.; Quelin C; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France.; Morel G; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France.; Goldenberg A; Service de Génétique-Unité de Génétique Clinique, CHU Rouen, Rouen, France.; Guerrot AM; Service de Génétique-Unité de Génétique Clinique, CHU Rouen, Rouen, France.; Vera G; Service de Génétique-Unité de Génétique Clinique, CHU Rouen, Rouen, France.; Gruchy N; Service de Génétique, CHU Caen Clemenceau, EA 7450 Biotargen - Université de Caen, Caen, France.; Colson C; Clinique de Génétique Guy Fontaine et Centre de Référence Maladies Rares 'Anomalies Du Développement et Syndromes Malformatifs' Nord-Ouest, CHU Lille, Lille, France.; Boute O; Clinique de Génétique Guy Fontaine et Centre de Référence Maladies Rares 'Anomalies Du Développement et Syndromes Malformatifs' Nord-Ouest, CHU Lille, Lille, France.; Abel C; Service de Génétique, CHU de Lyon HCL - GH Nord-Hôpital de La Croix Rousse, Lyon, France.; Putoux A; Service de Génétique, CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant, Bron, France.; Amiel J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, AP-HP, Paris, France.; Guichet A; Plateau de Biochimie et Médecine Moléculaire, CHU d'Angers, Angers, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Deiller C; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Equipe Maladies Génétiques de L'Enfant et de L'Adulte, CHU de Montpellier, Montpellier, France.; Wells C; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Equipe Maladies Génétiques de L'Enfant et de L'Adulte, CHU de Montpellier, Montpellier, France.; Rooryck C; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Legendre M; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Francannet C; Service de Génétique Médicale, Pôle Femme et Enfant, CHU de Clermont-Ferrand, Clermont-Ferrand, France.; Dard R; Unité Fonctionnelle de Génétique Médicale, Cytogénétique, Génétique Médicale et Biologie de La Reproduction, Centre Hospitalier Intercommunal Poissy-Saint-Germain-en-Laye, Poissy, France.; Sigaudy S; Département de Génétique Médicale, Unité de Génétique Clinique Prénatale, CHU de Marseille-Hôpital de La Timone, Marseille, France.; Bruel AL; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Safraou H; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Denommé-Pichon AS; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Nambot S; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; Asensio MH; Centre D'Investigation Clinique CIC-EC Inserm CIC1432, UFR des Sciences de Santé, Université de Bourgogne-Franche-Comté, Dijon, France.; Binquet C; Centre D'Investigation Clinique CIC-EC Inserm CIC1432, UFR des Sciences de Santé, Université de Bourgogne-Franche-Comté, Dijon, France.; Duffourd Y; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Vitobello A; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Philippe C; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Faivre L; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Tran-Mau-Them F; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.; Bourgon N; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Service d'Obstétrique Maternité́, Chirurgie Médecine et Imagerie Fœtale, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsmaa, Emilia; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda; Sherr, Elliott; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre; van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Eur J Hum Genet
European Journal of Human Genetics, 33, 8, pp. 989-996

Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sébastien; Quélin, Chloé; Colson, Cindy; Brehin, Anne Claire; Guerrot, Anne Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnés; Abel, Carine; Morel, Godeliève; Fradin, Mélanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Médéric; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kévin; Blanc, Pierre; Martinaud, Aurélie; Binquet, C; Duffourd, Yannis; Safraou, Hana; Denommé‐pichon, Anne‐sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran Mau-Them, Frédéric; Bourgon, Nicolas

European Journal of Human Genetics. 33:675-682

Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Clayton-Smith J; Division of Evolution, Infection and Genomics, 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 Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France.; Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.; Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Jackson A; Division of Evolution, Infection and Genomics, 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 Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.; Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France.; Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany.; Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.; Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain. sergi.beltran@cnag.eu.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; In Process

Salima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus; Magalie Barth; Estelle Colin; Yosra Halleb; Clara Houdayer; Clément Prouteau; Marine Tessarech; Alban Ziegler; Chloé Angelini; Marie-Pierre Baudier; Meryem Britel; Noémie Bronnec; Clémence Deiber; Virginie Dorian; Juliette Gaudry; Cyril Goizet; Nawel Hairech; Ouidad Hasnaoui; Manon Laurent; Marine Legendre; Sophie Naudion; Ndeye-Fatou Ngom; Caroline Rooryck Thambo; Julien Van Gils; Cécile Zordan; Myriam Borel; Anne-Sophie Briffaut; Charley Robert Viard; Delphine Bacq-Daian; Celine Besse; Bertrand Fin; Vincent Meyer; Marie-Laure Moutet; Robert Olaso; Florian Sandron; Violette Turon; Celine Bernard; Marie Bournez; Ange-Line Bruel; Eleonore Viora-Dupont; Julian Delanne; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Romain Duquet; Aurelie Espitalier; Clemence Fauconnier-Fatus; Sophie Nambot; Aurore Petiot; Victor Pillay; Charlotte Poe; Melodie Soto; Christel Thauvin; Mylene Tharreau; Antonio Vitobello; Marjolaine Gauthier; Marie-Ange Nguyen Morel; Frederique Nugues; Antoine Wyrebski; Klaus Dieterich; Pauline Le Tanno; Laurence Bellengier; Odile Boute; Cindy Colson; Anne Dieux; Jamal Ghoumid; Luisa Marsili; Florence Petit; Coralie Rubeck; Clemence Vanlerberghe; Catherine Vincent-Delorme; Christelle Rougeot-Jung; Aurore Curie; Vincent des Portes; Sylvie Goutte; Damien Haye; Audrey Labalme; Pauline Monin; Marianne Till; Thibaud Armand; Julie Reversat; Françoise Robert; Amelie Berthiot; Marion Colard; Lamia El Amrani-El Idrissi; Tiphaine Francois; Haymanot George; Manel Saidi; Karima Rendja; Iracema Triguel; Claire Bardel; Pierre Antoine Rollat-Farnier; Audrey Putoux; Massimiliano Rossi; Linda Pons; Emilie Consolino; Olga Glazunova; Audrey Mallet; Nicole Philip-Sarles; Florence Riccardi; Valerie Seror; Severine Beltram; Florent Cerret; Laura Crantelle; Mirna Khalil; Patricia Blanchet; Caroline Deiller; Emmanuelle Haquet; Lucile Pinson; Constance Wells; Francis Guillemin; Solene Conrad; Laura Guyon; Sandra Mercier; Mathilde Nizon; Annastasia Voisine; Kahina Abdallah; Jeanne Amiel; Genevieve Baujat; Wiam Bhia; Jean-Paul Bonnefont; Valerie Cormier-Daire; Narimene De Nadai; Valeria Florentino; Kelly Gouvenot; Anne Guimier; Hamza Hadj Abdallah; Jerome Jeannette; Sandrine Marlin; Cecile Masson; Caroline Michot; Lea Peroni; Serge Romana; Alexandra Afenjar; Lydie Burglen; Sandra Whalen; Julien Buratti; Eric Leguern; Anne Faudet; Anna Gerasimenko; Caroline Moukossi-Mouelle; Linda Mouthon; Anne-Sophie Pellen; Stephanie Staraci; Daphne Lehalle; Helene Esperou; Soizic Le Mestre; Claire Levy-Marchal; Wilfrid Carre; Marie De Tayrac; Christele Dubourg; Chloé Fournier; Linda Akloul; Melanie Fradin; Nolwenn Jean-Marcais; Alinoë Lavillaureix; Godelieve Morel; Laurent Pasquier; Elisabeth Poirel; Audrey Riou; Paul Rollier; Anne-Claire Brehin; Pascal Chambon; Delphine Gonde; Geraldine Joly-Helas; Nadege Calmels; Celine Cuny; Claire Feger; Benjamin Durand; Nathalie Goetz; Pierre-Yves Maillard; Sophie Monduc; Elise Schaefer; Sophie Scheidecker; Jean Muller; Amelie Piton

Genome Med

Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen

Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine

Viora-Dupont E; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, Dijon Bourgogne University Hospital, Dijon, France.; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Denommé-Pichon A; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.; Chevarin M; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.; Patat O; Service de Génétique Médicale, CHU Toulouse, France, Toulouse, France.; Willems M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Université de Montpellier, CHU de Montpellier, CLAD ASOOR Montpellier, Montpellier, France.; Institute for Neurosciences of Montpellier, Université de Montpellier, INSERM, Montpellier, France.; Bourgon N; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Bruel A; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.; Aubert-Mucca M; Service de Génétique Médicale, CHU Toulouse, France, Toulouse, France.; Galinier M; Fédération des Services de Cardiologie, CHU Toulouse-Rangueil, Toulouse, France.; UMR UT3 CNRS 5288 Evolutionary Medicine, Obesity and Heart Failure: Molecular and Clinical Investigations, INI-CRCT F-CRIN, GREAT Networks, Toulouse, France.; Université Paul Sabatier-Toulouse III, Faculté de Médecine, Toulouse, France.; Itier R; UMR UT3 CNRS 5288 Evolutionary Medicine, Obesity and Heart Failure: Molecular and Clinical Investigations, INI-CRCT F-CRIN, GREAT Networks, Toulouse, France.; Decramer S; Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud-Ouest, Toulouse, France.; Piton A; Unité de Génétique Moléculaire, Strasbourg University Hospital, Strasbourg, France.; Gerard B; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Billon C; Centre de Référence des Maladies Vasculaires Rares et Département de génétique, Hôpital Européen Georges Pompidou, Paris, France.; Jeunemaitre X; Centre de Référence des Maladies Vasculaires Rares et Département de génétique, Hôpital Européen Georges Pompidou, Paris, France.; Duffourd Y; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.; Callier P; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Thauvin C; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon, France.; Philippe C; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.; Faivre L; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, Dijon Bourgogne University Hospital, Dijon, France.; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Albuisson J; Centre de Référence des Maladies Vasculaires Rares et Département de génétique, Hôpital Européen Georges Pompidou, Paris, France.; Vitobello A; UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, UFR des Sciences de Santé, INSERM-University of Burgundy, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Dijon Bourgogne University Hospital, Dijon, France.

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

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

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