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AMERICAN JOURNAL OF HUMAN GENETICS. 109(8):1421-1435

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In European Journal of Cancer 5 February 2025 216

Mirzaa GM; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Yan K; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Levesque M; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada.; Jayasinghe P; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.; Timpano S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Yalcin B; INSERM UMR1231, University of Bourgogne, Dijon, France.; Collins S; INSERM UMR1231, University of Bourgogne, Dijon, France.; Ziegler A; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; Pao E; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Oyama N; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brischoux-Boucher E; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Piard J; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA.; Fernández-Mayoralas DM; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.; Fernández-Jaén A; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Palomares-Bralo M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarrone', University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. 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Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Picketts DJ; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

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Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)

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Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0235266 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4628 (Electronic) Linking ISSN: 00392499 NLM ISO Abbreviation: Stroke Subsets: MEDLINE

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In European Journal of Medical Genetics May 2021 64(5)

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; 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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

Nambot S; Faivre L; Mirzaa G; Thevenon J; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Goldenberg A; Le Meur N; Charollais A; Mignot C; Petit F; Rossi M; Metreau J; Layet V; Amram D; Boute-Bénéjean O; Bhoj E; Cousin MA; Kruisselbrink TM; Lanpher BC; Klee EW; Fiala E; Grange DK; Meschino WS; Hiatt SM; Cooper GM; Olivié H; Smith WE; Dumas M; Lehman A; CAUSES Study; Inglese C; Nizon M; Guerrini R; Vetro A; Kaplan ES; Miramar D; Van Gils J; Fergelot P; Bodamer O; Herkert JC; Pajusalu S; Õunap K; Filiano JJ; Smol T; Piton A; Gérard B; Chantot-Bastaraud S; Bienvenu T; Li D; Juusola J; Devriendt K; Bilan F; Poé C; Chevarin M; Jouan T; Tisserant E; Rivière JB; Tran Mau-Them F; Philippe C; Duffourd Y; Dobyns WB; Hevner R; Thauvin-Robinet C

European Journal of Human Genetics. 28:770-782

Liang, LN; Li, X; Moutton, S; Vergano, SA; Cogne, B; Saint-Martin, D; Hurst, ACE; Hu, YS; Bodamer, O; Thevenon, J; Hung, CY; Isidor, B; Gerard, B; Rega, A; Nambot, S; Lehalle, D; Duffourd, Y; Thauvin-Robinet, C; Faivre, L; Bezieau, S; Dure, LS; Helbling, DC; Bick, D; Xu, CQ; Chen, QY; Verheijen - Mancini, Grazia; Vitobello, A; Wang, QK

Human Molecular Genetics. 28:2937-2951

Zagorec N; Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de Référence MARHEA, Brest; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia; Department of Nephrology and Dialysis, Dubrava University Hospital, Zagreb, Croatia.; Calamel A; Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de Référence MARHEA, Brest.; Delaporte M; Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de Référence MARHEA, Brest.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Orr S; Biosciences Institute, Newcastle Upon Tyne.; Sayer JA; Biosciences Institute, Newcastle Upon Tyne; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle Upon Tyne; the Newcastle upon Tyne Hospitals NHS Foundation Trust, Renal Services, Newcastle Upon Tyne.; Pillay VG; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon; INSERM UMR1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche-Comté.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon; INSERM UMR1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche-Comté.; Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon; INSERM UMR1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche-Comté.; Nambot S; INSERM UMR1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche-Comté; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon.; Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU Dijon; INSERM UMR1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche-Comté; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon.; Ars E; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Recerca Sant Pau (R Sant Pau), Medicine Department, RICORS2040, Universitat Autónoma de Barcelona, Barcelona, Spain.; Torra R; Department of Nephrology, Fundació Puigvert, Instituto de Recerca Sant Pau (R Sant Pau), Medicine Department, RICORS2040, Universitat Autónoma de Barcelona, Barcelona, Spain.; Ong ACM; Kidney Genetics Group, Academic Nephrology, Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.; Devuyst O; Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Perico N; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Bergamo, Italy.; Després AM; Service de Génétique Moléculaire, CHRU Brest, Brest.; Lemoine H; University of Brest, Inserm, UMR 1078, Génétique, Génomique Fonctionelle et Biotechnologies, Brest.; de Fallois J; Division of Nephrology, Department of Internal Medicine, University of Leipzig Medical Center, Leipzig, Germany.; Brousse R; Sorbonne Université, INSERM UMRS 1155, Nephrology Department, Assistance Publique Hopitaux De Paris, Hopital Tenon, Paris.; Hummel A; Department of Nephrology, Necker Hospital, Assistance Publique-Hopitaux de Paris, Paris.; Knebelmann B; Department of Nephrology, Necker Hospital, Assistance Publique-Hopitaux de Paris, Paris.; Maisonneuve N; Service de Néphrologie-Dialyse, Centre Hospitalier de Valenciennes, Valenciennes, France.; Halbritter J; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedicin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universittät zu Berlin, Berlin, Germany.; Le Meur Y; Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de Référence MARHEA, Brest; University of Brest, UMR 1227, B Lymphocytes, Autoimmunity and Immunotherapies, Labex IGO, Brest, France.; Audrézet MP; Service de Génétique Moléculaire, CHRU Brest, Brest; University of Brest, Inserm, UMR 1078, Génétique, Génomique Fonctionelle et Biotechnologies, Brest.; Cornec-Le Gall E; Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de Référence MARHEA, Brest; University of Brest, Inserm, UMR 1078, Génétique, Génomique Fonctionelle et Biotechnologies, Brest. Electronic address: emilie.cornec-legall@chu-brest.fr.

Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE

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

Villy MC; Department of Oncogenetics, Assistance Publique - Hôpitaux de Paris (APHP), Saint-Louis Hospital, Paris, France. marie-charlotte.villy@aphp.fr.; INSERM U1339, CNRS UMR3666, DNA Repair and Uveal Melanoma Team, Institut Curie, Paris, France. marie-charlotte.villy@aphp.fr.; Drouet Y; Prevention and Public Health Department, Léon Bérard Center, Lyon, France.; Larcher L; Department of Biological Hematology, Saint-Louis Hospital, Paris, France.; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France.; Vial Y; Department of Genetics, Assistance Publique - Hôpitaux de Paris (APHP), Robert-Debré Hospital, Paris, France.; Dauriat B; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Veyrune L; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Fenwarth L; Department of Biological Hematology, Lille University Hospital, Lille, France.; Auboiroux MM; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Freiman L; Department of Clinical Hematology, Saint-Louis Hospital, Paris, France.; Nambot S; Department of Oncogenetics, Centre Georges-François Leclerc, UNICANCER, Dijon, France.; Patay L; Department of Oncogenetics, Centre Georges-François Leclerc, UNICANCER, Dijon, France.; Willems M; Department of Genetics, Montpellier University Hospital, Montpellier, France.; Lachaier E; Department of Clinical Genetics and Oncogenetics, Amiens University Hospital, Amiens, France.; Bonte B; Department of Clinical Genetics and Oncogenetics, Amiens University Hospital, Amiens, France.; Lebon D; Department of Clinical Hematology, Amiens University Hospital, Amiens, France.; Lepage M; Department of Oncogenetics, Jean Perrin Center; INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Auvergne University, Clermont-Ferrand, France.; Ingster O; Department of Oncogenetics, Assistance Publique - Hôpitaux de Paris (APHP), Saint-Louis Hospital, Paris, France.; Department of Genetics, Angers University Hospital, Angers, France.; Gachard N; Hematology Laboratory, Limoges University Hospital, Limoges, France.; Cluzeau T; Department of Hematology, Nice University Hospital, Nice, France.; Loschi M; Department of Hematology, Nice University Hospital, Nice, France.; Soulier J; Department of Biological Hematology, Saint-Louis Hospital, Paris, France.; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France.; Flandrin-Gresta P; Department of Biological Hematology, Saint-Etienne University Hospital, Saint-Etienne, France.; Turlure P; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Duployez N; Department of Biological Hematology, Lille University Hospital, Lille, France.; Clappier E; Department of Biological Hematology, Saint-Louis Hospital, Paris, France.; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France.; Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; Lasset C; Prevention and Public Health Department, Léon Bérard Center, Lyon, France.; Colas C; INSERM U1339, CNRS UMR3666, DNA Repair and Uveal Melanoma Team, Institut Curie, Paris, France.; Department of Genetics, Institut Curie, Paris, France.; Sebert M; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France. marie.sebert@aphp.fr.; Department of Clinical Hematology, Saint-Louis Hospital, Paris, France. marie.sebert@aphp.fr.

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

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

Delanne, J. ; Nambot, S. ; Chassagne, A. ; Putois, O. ; Pelissier, A. ; Peyron, C. ; Gautier, E. ; Thevenon, J. ; Cretin, E. ; Bruel, A.L. ; Goussot, V. ; Ghiringhelli, F. ; Boidot, R. ; Tran Mau-Them, F. ; Philippe, C. ; Vitobello, A. ; Demougeot, L. ; Vernin, C. ; Lapointe, A.S. ; Bardou, M. ; Luu, M. ; Binquet, C. ; Lejeune, C. ; Joly, L. ; Juif, C. ; Baurand, A. ; Sawka, C. ; Bertolone, G. ; Duffourd, Y. ; Sanlaville, D. ; Pujol, P. ; Geneviève, D. ; Houdayer, F. ; Thauvin-Robinet, C. ; Faivre, L.

In European Journal of Medical Genetics June 2019 62(6)

Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Santini A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Laboratoire SeqOIA, Paris, France.; Essid M; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; GCS AURAGEN, Lyon, France.; Member of ERN EpiCARE.; Athanasiadou M; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; LaFlamme CW; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, Memphis, TN, USA.; Marijon P; Laboratoire SeqOIA, Paris, France.; Bernard V; GCS AURAGEN, Lyon, France.; Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; GCS AURAGEN, Lyon, France.; Barcia G; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Laboratoire SeqOIA, Paris, France.; Member of ERN EpiCARE.; Keren B; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Mignot C; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Charles P; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Besnard T; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; de Sainte Agathe JM; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Fuerte EPA; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.; Sengupta S; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.; Milh M; Service de Neurologie Pediatrique, AP-HM, Marseille, France.; Aix Marseille Univ, Inserm, INMED, U1249, Marseille, France.; Ramond F; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Allan T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; An I; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France.; Araujo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.; Arpin S; Service de Génétique, CHU de Tours, Tours, France.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Auvin S; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Université Paris Cité, INSERM NeuroDiderot, Paris, France.; Member of ERN EpiCARE.; Baer S; Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Member of ERN EpiCARE.; Bahi-Buisson N; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.; Barth M; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France.; Baulac S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Weirauch NB; Service de Pédiatrie, CHU Reims, Reims, France.; Université Reims Champagne Ardenne (URCA), UFR médecine, Reims, France.; CReSTIC/EA 3804, URCA, Reims, France.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Bennett MF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Genetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Bensabath U; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Bézieau S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bhouri R; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.; Biehler M; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.; Danish Epilepsy center, Dianalund, Denmark.; Bogoin J; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Bonanno E; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Bramswig NC; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.; Bris C; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France.; Brosseau-Beauvir A; Center for Intellectual Disability Reference, Brest University Hospital, Brest, France.; Bruel AL; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Buratti J; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Chambon P; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Laboratoire SeqOIA, Paris, France.; Chemaly N; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France.; Member of ERN EpiCARE.; Chesneau B; Service de Génétique médicale, CHU Purpan, Toulouse, France.; Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France.; Colmard M; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.; Conrad S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Courtin T; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Dang LT; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, USA.; de Saint Martin A; Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Member of ERN EpiCARE.; de Vanssay de Blavous Legendre C; service de Pédiatrie, consultation de neurologie pédiatrique GHH Jacques Monod, Le Havre, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; DiTroia S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Doco-Fenzy M; UF de Génétique Clinique, CHU de Reims, Reims, France.; Université Reims Champagne Ardenne (URCA), UFR médecine, Reims, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Laboratoire SeqOIA, Paris, France.; Dubucs C; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.; Ducreux S; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Laboratoire SeqOIA, Paris, France.; Dufour L; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Duquet R; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Durand B; Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Chehadeh SE; Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; 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, Centre de référence Déficiences Intellectuelles de Causes Rares et Centre de référence GénoPsy, Dijon, France.; Faoucher M; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Laboratoire SeqOIA, Paris, France.; GCS AURAGEN, Lyon, France.; Faudet A; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Forlani S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Fradin M; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Gaignard P; Laboratoire de Biochimie Site Bicêtre, Faculté de Pharmacie, Hôpitaux Universitaires Paris-Saclay, Centre de référence des Maladies Mitochondriales, Filière Filnemu, Paris, France.; Laboratoire SeqOIA, Paris, France.; Ganne B; Laboratoire de Génétique chromosomique, CHU de Montpellier, Montpellier, France.; Garde A; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, Dijon, France.; Géraud J; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France.; Gill D; Kids Neuroscience Centre, Kids Research Institute, Sydney, NSW, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Sydney, NSW, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; Goldenberg A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Grabli D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France.; Grisel C; Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil, France.; Gueden S; Department of Pediatric Neurology, Angers University Hospital, Angers, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Laboratoire SeqOIA, Paris, France.; Guerrot AM; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France.; Härting N; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Häusler MG; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, University Hospital, Rheinisch-Westfälische Technische Hochschule Aachen, Aachen, Germany.; Heide S; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Héron B; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Héron D; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Heulin M; Service de Neuropédiatrie, Hôpital Jean-Verdier, Bondy, France.; Houdayer C; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Jacquette A; consultation de génétique, CCMR ANDDI rare, centre hospitalier d'Alençon, Alençon, France.; Januel L; Genetics Department, Hospices Civils de Lyon, Lyon, France.; GCS AURAGEN, Lyon, France.; Jean-Marçais N; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Jousselin K; Laboratoire SeqOIA, Paris, France.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; King C; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Konyukh M; Département de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.; Laboratoire SeqOIA, Paris, France.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Kirstetter R; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Labalme A; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Laloy JS; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Laugel V; Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Bricquir FL; Nantes Université, CHU de Nantes, Service de Pédiatrie, Nantes, France.; Lèbre AS; Laboratoire de Génétique, CHU de Reims, Reims, France.; Université Reims Champagne Ardenne (URCA), UFR médecine, Reims, France.; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, [Krebs team], Paris, France.; Lebrun M; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; GCS AURAGEN, Lyon, France.; Leguern E; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Levy J; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Laboratoire SeqOIA, Paris, France.; Lieffering N; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Lyonnet S; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Lüthy K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Macdonald S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Mansour-Hendili L; Laboratoire SeqOIA, Paris, France.; Maraval 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, Centre de référence Déficiences Intellectuelles de Causes Rares et Centre de référence GénoPsy, Dijon, France.; Mattausch C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Messaoud O; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Morel G; Service de Génétique, CHU (Centre Hospitalier Universitaire) de La Réunion, Saint-Denis, La Réunion, France.; Mortreux J; GCS AURAGEN, Lyon, France.; Munnich A; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Nabbout R; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France.; Member of ERN EpiCARE.; Nambot S; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, Dijon, France.; Navarro V; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Neale A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Nguyen L; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Nizon M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nowak F; Health Technologies Institute, Inserm, Paris, France.; O'Leary MC; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Odent S; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Ojeda NM; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Olin V; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Paluch R; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Panagiotakaki E; Department of Pediatric Epileptology, University Hospitals of Lyon (HCL), Lyon, France.; Member of ERN EpiCARE.; Patat O; Service de Génétique médicale, CHU Purpan, Toulouse, France.; Perrin-Sabourin L; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Petit F; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Philippe C; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.; GCS AURAGEN, Lyon, France.; Piton A; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; GCS AURAGEN, Lyon, France.; Planes M; Medical Genetics Department, Brest University Hospital, Brest, France.; Poirsier C; UF de Génétique Clinique, CHU de Reims, Reims, France.; Pouzet A; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Prouteau C; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France.; Quéméner-Redon S; Medical Genetics Department, Brest University Hospital, Brest, France.; Center for Intellectual Disability Reference, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Renaud M; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; Richard AC; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Rio M; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Rivier C; Department of Pediatrics, Hôpital Nord-Ouest, Villefranche sur Saône, France.; Robin-Renaldo F; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Rollier P; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Rossi M; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Roubertie A; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.; INM, INSERM U 1298, Montpellier, France.; Rupin M; Department of Pediatric Neurology, Angers University Hospital, Angers, France.; Saugier-Veber P; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Laboratoire SeqOIA, Paris, France.; Saneto R; Neuroscience Institute, Norcliff Center for Integrative Brain Research, Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, USA.; Sarrazin E; Caribbean Reference Center for Neuromuscular Diseases, University Hospital, Fort de France, Martinique, France.; Schaefer E; Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Schluth-Bolard C; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; GCS AURAGEN, Lyon, France.; Schneider A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Schumann I; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.; Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.; Seplyarskiy V; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Laboratoire SeqOIA, Paris, France.; Sunyaev S; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA.; Sperelakis-Beedham B; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Laboratoire SeqOIA, Paris, France.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Stock F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey.; Toulouse J; Department of Pediatric Epileptology, University Hospitals of Lyon (HCL), Lyon, France.; Member of ERN EpiCARE.; Thiyagarajah H; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Valence S; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Valleix S; Assistance Publique - Hôpitaux de Paris (APHP), Paris City University, Genomic Medicine Department of systemic and organ diseases, Cochin hospital, Paris, France.; Villard L; Service de Génétique Médicale, AP-HM, Marseille, France.; Aix Marseille Univ, Inserm, INMED, U1249, Marseille, France.; Ville D; Department of Pediatric Neurology and Reference Center for Rare Children Epilepsy and Tuberous Sclerosis, Hôpital Femme Mere Enfant, Centre Hospitalier Universitaire de Lyon, Lyon, France.; Villeneuve N; Service de Neurologie Pediatrique, AP-HM, Marseille, France.; Member of ERN EpiCARE.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France.; Waernessyckle A; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Weber Y; Section of Epileptology, Department Neurology, Medical Faculty, University RWTH Aachen, Aachen, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf,, Düsseldorf, Germany.; Witkowski T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Yadavilli M; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Yammine T; Laboratoire de Génétique, CHU de Reims, Reims, France.; Zaafrane-Khachnaoui K; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Ziegler A; UF de Génétique Clinique, CHU de Reims, Reims, France.; Service de Génétique médicale, CHU Purpan, Toulouse, France.; GCS AURAGEN, Lyon, France.; Lermine A; Laboratoire SeqOIA, Paris, France.; Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Laboratoire SeqOIA, Paris, France.; Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.; Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.; Blanc P; Laboratoire SeqOIA, Paris, France.; Thevenon J; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.; GCS AURAGEN, Lyon, France.; Charbonnier C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France.; Charenton C; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Laboratoire SeqOIA, Paris, France.; Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; GCS AURAGEN, Lyon, France.; Member of ERN EpiCARE.; Nava C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.

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

Demougeot, L. ; Houdayer, F. ; Pélissier, A. ; Mohrez, F. ; Thevenon, J. ; Duffourd, Y. ; Nambot, S. ; Gautier, E. ; Binquet, C. ; Rossi, M. ; Sanlaville, D. ; Béjean, S. ; Peyron, C. ; Thauvin-Robinet, C. ; Faivre, L.

In Archives de pédiatrie February 2018 25(2):77-83

Tran Mau-Them, Frederic; Moutton, Sebastien; Racine, Caroline; Vitobello, Antonio; Bruel, Ange-Line; Nambot, Sophie; Kushner, Steven A.; de Vrij, Femke M. S.; Lehalle, Daphné; Jean-Marçais, Nolwenn; Lecoquierre, François; Delanne, Julian; Thevenon, Julien; Poe, Charlotte; Jouan, Thibaut; Chevarin, Martin; Geneviève, David; Willems, Marjolaine; Coubes, Christine; Houcinat, Nada; Masurel-Paulet, Alice; Mosca-Boidron, Anne-Laure; Tisserant, Emilie; Callier, Patrick; Sorlin, Arthur; Duffourd, Yannis; Faivre, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel

Human Genetics. 139(11):1381-1390

Vos N; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; van der Laan L; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Russel PKM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Relator R; 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Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; van Hagen JM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Lakeman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Rumping L; Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Drie Eikenstraat 655, 2650, Edegem, Belgium.; Bosch DGM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Vitobello A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; Thauvin-Robinet C; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France.; Faivre L; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France.; Nambot S; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France.; Garde A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France.; Willems M; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France.; Genevieve D; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France.; Nicolas G; Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, 76000, Rouen, France.; Busa T; Department of Medical Genetics, Timone Hospital, Marseille, France.; Toutain A; Genetics Department, University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Gérard M; APHP, Department of Genetics, Robert Debré Hospital, 75019, Paris, France.; Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de L'Estran, 50170, Pontorson, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.; Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.; Accadia M; Servizio di Genetica Medica, Ospedale Cardinale G. Panico, Tricase, LE, Italy.; Schwartz CE; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA.; Ounap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON, M2K 1E1, Canada.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Rogers C; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Brusco A; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; Unit of Medical Genetics, Città Della Salute e Della Scienza Hospital, Turin, Italy.; Ferrero GB; Department of Clinical and Biological Science, University of Torino, Turin, Italy.; Spodenkiewicz M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Turin, Italy.; Trajkova S; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Mroczkowski HJ; Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, TN, USA.; Division of Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA.; Jansen S; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Donker-Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Duijkers FAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Mannens MMAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Alders M; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Henneman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada. bekim.sadikovic@lhsc.on.ca.; van Haelst MM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Department of Paediatrics, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Gruyer, B., Dr; Groussin, L., Pr; Rouland, A., Dr; Fourmont, C., Dr; Buffier, P., Dr; Verges, B., Pr; Nambot, S., Dr; Baillot-Rudoni, S., Dr

Annales d'Endocrinologie. 83(5):346-346

Lemattre, C.; Thevenon, J.; Duffourd, Y.; Nambot, S.; Haquet, E.; Vuadelle, B.; Geneviève, D.; Sarda, P.; Bruel, A.L.; Kuentz, P.; Wells, C.F.; Faivre, L.; Willems, M.

American Journal of Medical Genetics Part A. 176:2813-2818