부산대학교 도서관

Ormieres, C.; Lesieur-Sebellin, M.; Delplancq, G.; Rio, M.; Malan, V.; Siquier-Pernet, K.; Bodineau, A.; Narcy, L.; Schlumberger, E.; Cantagrel, V.; Parisot, M.; Nitschké, P.; Rodriguez-Fontenla, C.

In: Molecular Autism. (Molecular Autism, December 2025, 16(1))

Qebibo L; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, AP-HP. Sorbonne Université, Paris, France; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Paris, France.; Davakan A; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics,' Montpellier, France.; Nesson-Dauphin M; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Paris, France.; Boulali N; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics,' Montpellier, France.; Siquier-Pernet K; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Paris, France.; Afenjar A; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France.; Amiel J; Service de Médecine Génomique des Maladies Rares, Necker Enfants Malades University Hospital, APHP, Paris, France.; Bartholdi D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Switzerland.; Barth M; Department of Biochemistry and Genetics, Angers University Hospital, Angers France.; Blondiaux E; Department of Radiology, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris, France.; Cristian I; Arnold Palmer Hospital for Children, Orlando Health, FL.; Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Goldenberg A; Université Rouen Normandie, INSERM U1245, CHU de Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.; Salussolia CL; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA.; McCullagh H; Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.; McDonald K; Department of Pediatrics, University of Louisville, Norton Children's Hospital, Louisville, KY.; McRae A; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Morrison J; Arnold Palmer Hospital for Children, Orlando Health, FL.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network and University of New South Wales, Sydney, Australia.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.; Toutain A; Unité fonctionnelle de Génétique Médicale, Centre Hospitalier Universitaire, Tours, France.; Vyhnálková E; Charles University, Motol University Hospital, Prague, Czech Republic.; Wheeler PG; Arnold Palmer Hospital for Children, Orlando Health, FL.; Wilnai Y; Tel Aviv Sourasky Medical Center, Genetic Institute, Tel Aviv, Israel.; Hausman-Kedem M; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Center and Faculty of Medical and Health Science, Tel-Aviv University, Tel-Aviv, Israel.; Coolen M; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Paris, France.; Cantagrel V; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Paris, France. Electronic address: vincent.cantagrel@inserm.fr.; Burglen L; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, AP-HP. Sorbonne Université, Paris, France; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Paris, France. Electronic address: lydie.burglen@aphp.fr.; Lory P; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics,' Montpellier, France. Electronic address: philippe.lory@igf.cnrs.fr.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Dennis Mircsof; Maéva Langouët; Marlène Rio; Sébastien Moutton; Karine Siquier-Pernet; Christine Bole-Feysot; Nicolas Cagnard; Patrick Nitschke; Ludmila Gaspar; Matej Žnidarič; Olivier Alibeu; Ann-Kristina Fritz; David P Wolfer; Aileen Schröter; Giovanna Bosshard; Markus Rudin; Christina Koester; Florence Crestani; Petra Seebeck; Nathalie Boddaert; Katrina Prescott; Rochelle Hines; Steven J Moss; Jean-Marc Fritschy; Arnold Munnich; Jeanne Amiel; Steven A Brown; Shiva K Tyagarajan; Laurence Colleaux

Nature Neuroscience

Crespin M; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France.; Siquier-Pernet K; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France.; Marzin P; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France.; Bole-Feysot C; Université Paris Cité, Genomics Platform, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.; Malan V; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France.; Nitschké P; Université Paris Cité, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.; Hully M; Département de Neurologie Pédiatrique, Necker Enfants-Malades Hospital, APHP Centre, Université Paris Cité, 75015 Paris, France; AP-HP, Necker Enfant Malade Hospital, Unité de Médecine Physique et de Réadaptation, 75015 Paris, France.; Roux CJ; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Necker Enfant Malade Hospital, 75015 Paris, France.; Lemoine M; AP-HP, Necker Enfant Malade Hospital, Unité de Médecine Physique et de Réadaptation, 75015 Paris, France.; Rio M; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France.; Boddaert N; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Necker Enfant Malade Hospital, 75015 Paris, France.; Courtin T; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France.; Cantagrel V; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France. Electronic address: vincent.cantagrel@inserm.fr.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Efthymiou, S; Salpietro, V; Malintan, N; Poncelet, M; Kriouile, Y; Fortuna, S; De Zorzi, R; Payne, K; Henderson, LB; Cortese, A; Maddirevula, S; Alhashmi, N; Wiethoff, S; Ryten, M; Botia, JA; Provitera, V; Schuelke, M; Vandrovcova, J; SYNAPS Study Group; Walsh, L; Torti, E; Iodice, V; Najafi, M; Karimiani, EG; Maroofian, R; Siquier-Pernet, K; Boddaert, N; De Lonlay, P; Cantagrel, V; Aguennouz, M; El Khorassani, M; Schmidts, M; Alkuraya, FS; Edvardson, S; Nolano, M; Devaux, J; Houlden, H

Efthymiou, S.; Salpietro, V.; Malintan,N.; Poncelet, M.; Kriouile, Y.; Fortuna, S.; De Zorzi, R.; Payne, K.; Henderson, L.B.; Cortese, A.; Maddirevula, S.; Alhashmi, N.; Wiethoff, S.; Ryten, M.; Botia, J.A.; Provitera, V.; Schuelke, M.; Vandrovcova, J.; SYNAPS Study Group; Walsh, L.; Torti, E.; Iodice, V.; Najafi, M.; Karimiani, E.G.; Maroofian, R.; Siquier-Pernet, K.; Boddaert, N.; De Lonlay, P.; Cantagrel, V.; Aguennouz, M.; El Khorassani, M.; Schmidts, M.; Alkuraya, F.S.; Edvardson, S.; Nolano, M.; Devaux, J.; Houlden, H.; Cormand Rifà, Bru

Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Dipòsit Digital de la UB
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Nicolle R; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.; Altin N; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Salignac S; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Blanc P; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.; Munnich A; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.; Bole-Feysot C; Genomics Platform, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.; Malan V; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.; Caron B; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.; Nitschké P; Bioinformatics Core Facility, Université Paris Cité, INSERM UMR 1163, Imagine Institute, 75015, Paris, France.; Desguerre I; Département de Neurologie Pédiatrique, AP-HP, Necker Hospital for Sick Children, 75015, Paris, France.; Boddaert N; Département de Radiologie Pédiatrique, AP-HP, Necker Hospital for Sick Children and Université Paris Cité, INSERM UMR 1163 and INSERM U1299, Imagine Institute, Paris, 75015, France.; Rio M; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.; Rausell A; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.; Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France. vincent.cantagrel@inserm.fr.

Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, 70173 Stuttgart, Germany.; Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France.; Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Université Paris Cité, Imagine Institute, 75015 Paris, France.; Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France.; Boddaert N; Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Necker Enfants Malades Hospital, 75015 Paris, France.; Hertecant J; Division of Genetics and Metabolics, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; Kannouche PL; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France.; Pouvelle C; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France.; Htun S; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.; Slavotinek AM; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Diego-Alvarez D; Centogene GmbH, 18055 Rostock, Germany.; Kampe K; Centogene GmbH, 18055 Rostock, Germany.; Fleischer N; FDNA Inc., Boston, MA 02111, USA.; Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Department of Molecular Genetics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A1, Canada.; Kopajtich R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Suleiman J; Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Genetics and Metabolic Department, KidsHeart Medical Center, Abu Dhabi, United Arab Emirates.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Barcia, G.; Barnerias, C.; Rio, M.; Siquier-Pernet, K.; Desguerre, I.; Colleaux, L.; Munnich, A.; Rotig, A.; Nabbout, R.

European Journal of Medical Genetics. 56(12):683-685

Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.; Salpietro V; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.; Malintan N; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.; Poncelet M; INSERM U1051, Institut de Neurosciences de Montpellier (INM), Université de Montpellier, Montpellier, France.; Kriouile Y; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, and Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Morocco.; Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy.; De Zorzi R; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy.; Payne K; Riley Hospital for Children, Indianapolis, Indiana, IN, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Cortese A; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.; Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Alhashmi N; Department of Genetics, College of Medicine, Sultan Qaboos University, Sultanate of Oman.; Wiethoff S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany.; Ryten M; Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, London, UK.; Botia JA; Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, London, UK.; Departamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, E, Spain.; Provitera V; Department of Neurology, Istituti Clinici Scientifici Maugeri IRCCS, Italy.; Schuelke M; Department of Neuropediatrics, Charité Universitätsmedizin Berlin, Germany.; Vandrovcova J; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.; Walsh L; Riley Hospital for Children, Indianapolis, Indiana, IN, USA.; Torti E; GeneDx, Gaithersburg, MD, USA.; Iodice V; Department of Brain Repair and Rehabilitation, Institute of Neurology, University College London, UK.; Autonomic Unit, National Hospital Neurology and Neurosurgery, UCL NHS Trust, London, UK.; Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands.; Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London, UK.; Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London, UK.; Siquier-Pernet K; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France.; Boddaert N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Department of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France.; De Lonlay P; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Inserm, U1151, Institut Necker-Enfants Malades, Paris, France.; Cantagrel V; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France.; Aguennouz M; Department of Clinical and Experimental Medicine, University of Messina, Sicily.; El Khorassani M; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, and Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Morocco.; Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Mathildenstrasse 1, Freiburg, Germany.; Alkuraya FS; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Edvardson S; Paediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel.; Nolano M; Department of Neurology, Istituti Clinici Scientifici Maugeri IRCCS, Italy.; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University 'Federico II' of Naples, Italy.; Devaux J; INSERM U1051, Institut de Neurosciences de Montpellier (INM), Université de Montpellier, Montpellier, France.; Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.

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

Coolen M; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France. Electronic address: marion.coolen@inserm.fr.; Altin N; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Rajamani K; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Pereira E; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Siquier-Pernet K; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Puig Lombardi E; Université Paris Cité, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Moreno N; HDBR Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Barcia G; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France; Département de Génétique Médicale, AP-HP, Hôpital Necker-Enfants Malades, Paris 75015, France.; Yvert M; Centre Pluridisciplinaire de Diagnostic Prénatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence 33400, France.; Laquerrière A; Normandie Univ, UNIROUEN, INSERM U1245; Rouen University Hospital, Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Rouen 76183, France.; Pouliet A; Université Paris Cité, Genomics Platform, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Nitschké P; Université Paris Cité, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, Paris 75015, France.; Boddaert N; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Hôpital Necker-Enfants Malades, Paris 75015, France.; Rausell A; Université Paris Cité, INSERM UMR1163, Imagine Institute, Clinical Bioinformatics Laboratory and Molecular Genetics Service, Service de Médecine Génomique des Maladies Rares, AP-HP, Hôpital Necker-Enfants Malades, Paris 75015, France.; Razavi F; Unité d'Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France.; Afenjar A; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris 75012, France.; Billette de Villemeur T; Sorbonne Université, Service de Neuropédiatrie - Pathologie du Développement, Centre de Référence Déficiences Intellectuelles de Causes Rares et Polyhandicap, Hôpital Trousseau AP-HP, Paris 75012, France.; Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.; Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.; Baptista J; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth PL6 8BT, UK.; Beleza-Meireles A; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol BS1 3NU, UK.; Garel C; Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, AP-HP, Paris 75012, France.; Legendre M; Service de Génétique Médicale, CHU Bordeaux, Pellegrin Hospital, Bordeaux 33300, France.; Gelot A; Neuropathology, Department of Pathology, Trousseau Hospital, AP-HP, Paris 75012, France; INMED, Aix-Marseille University, INSERM UMR 1249, Marseille 13009, France.; Burglen L; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris 75012, France.; Moutton S; Centre Pluridisciplinaire de Diagnostic Prénatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence 33400, France.; Cantagrel V; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France. Electronic address: vincent.cantagrel@inserm.fr.

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

Pant DC; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Dorboz I; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, Paris, France.; Schluter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Fourcade S; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Launay N; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Joya J; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service, Navarrabiomed, Pamplona, Spain.; Yoldi ME; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service, Navarrabiomed, Pamplona, Spain.; Casasnovas C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.; Willis MJ; Department of Pediatrics, Naval Medical Center San Diego, San Diego, California, USA.; Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Ville D; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.; Lesca G; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, Lyon, France.; Siquier-Pernet K; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France.; Desguerre I; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France.; Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Molecular & Behavioral Neuroscience Institute, and.; Wang J; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Burmeister M; Molecular & Behavioral Neuroscience Institute, and.; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Brady L; Department of Pediatrics (Neuromuscular and Neurometabolics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Tarnopolsky M; Department of Pediatrics (Neuromuscular and Neurometabolics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Cornet C; ZeClinics SL, PRBB, Barcelona, Spain.; Rubbini D; ZeClinics SL, PRBB, Barcelona, Spain.; Terriente J; ZeClinics SL, PRBB, Barcelona, Spain.; James KN; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Musaev D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Patterson MC; Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.; Lanpher BC; Department of Clinical Genomics and.; Klee EW; Department of Clinical Genomics and.; Center for Individualized Medicine, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Pinto E Vairo F; Department of Clinical Genomics and.; Center for Individualized Medicine, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Wohler E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Cohen JS; Moser Center for Leukodystrophies at the Kennedy Krieger Institute, Baltimore, Maryland, USA.; Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.; Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Colleaux L; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France.; Rodriguez D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France.; GRC ConCer-LD, Sorbonne Universités, UPMC Université, Paris, France.; Gleeson JG; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Pujades C; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.; Fatemi A; Moser Center for Leukodystrophies at the Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.; Boespflug-Tanguy O; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, Paris, France.; Assistance Publique des Hopitaux de Paris (APHP), Reference Center for Leukodystrophies and Rare Leukoencephalopathies (LEUKOFRANCE), Hôpital Robert Debré, Paris, France.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Chemin J; IGF, CNRS, INSERM, University of Montpellier, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Siquier-Pernet K; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Nicouleau M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Barcia G; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Ahmad A; IGF, CNRS, INSERM, University of Montpellier, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Medina-Cano D; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Hanein S; Translational Genetics, INSERM UMR, Imagine Institute, Paris, France.; Altin N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Hubert L; Translational Genetics, INSERM UMR, Imagine Institute, Paris, France.; Bole-Feysot C; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Genomic Core Facility, Paris, France.; Fourage C; Paris-Descartes Sorbonne Paris-Cité University, Imagine Institute, Bioinformatics Core Facility, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Nitschké P; Paris-Descartes Sorbonne Paris-Cité University, Imagine Institute, Bioinformatics Core Facility, Paris, France.; Thevenon J; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs', Hôpital d'Enfants, CHU Dijon, Dijon, France.; Rio M; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Blanc P; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Vidal C; Translational Genetics, INSERM UMR, Imagine Institute, Paris, France.; Bahi-Buisson N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of embryology and genetics of congenital malformations, INSERM UMR1163, Paris, France.; Service de neurologie pédiatrique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Desguerre I; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Service de neurologie pédiatrique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Munnich A; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Lyonnet S; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Laboratory of embryology and genetics of congenital malformations, INSERM UMR1163, Paris, France.; Boddaert N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Pediatric Radiology Department, Necker Enfants Malades University Hospital, APHP, Paris, France.; Image - Institut Imagine, INSERM UMR1163 and INSERM U1000, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.; Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.; Zimmerman H; Division of Genetics, Department of Pediatrics, University of Mississippi Medical Center, 2500N State St, Jackson, MS, USA.; Amiel J; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.; Laboratory of embryology and genetics of congenital malformations, INSERM UMR1163, Paris, France.; Faivre L; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs', Hôpital d'Enfants, CHU Dijon, Dijon, France.; Colleaux L; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.; Lory P; IGF, CNRS, INSERM, University of Montpellier, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Cantagrel V; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.

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

Nicolle R; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Siquier-Pernet K; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Rio M; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Guimier A; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Ollivier E; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Nitschke P; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Bole-Feysot C; Université de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Romana S; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Hastie A; Bionano Genomics, San Diego, CA, USA.; Cantagrel V; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Malan V; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France. valerie.malan@aphp.fr.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. valerie.malan@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

Brechet A; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Buchert R; Institute of Human Genetics, University of Erlangen, Schwabachanlage 10, Erlangen 91054, Germany.; Schwenk J; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Center for Biological Signaling Studies (BIOSS), Schänzlestr. 18, Freiburg 79104, Germany.; Boudkkazi S; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Zolles G; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Siquier-Pernet K; INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital, Paris 75015, France.; Schaber I; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Bildl W; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Saadi A; Department de Neurologie, Etablissement Hospitalier Specialisé de Benaknoun, Algers, Algeria.; Bole-Feysot C; INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital, Paris 75015, France.; Nitschke P; INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital, Paris 75015, France.; Reis A; Institute of Human Genetics, University of Erlangen, Schwabachanlage 10, Erlangen 91054, Germany.; Sticht H; Institute of Biochemistry, Emil-Fischer Center, Fahrstraße 17, Erlangen 91054, Germany.; Al-Sanna'a N; Dharan Health Center, 8131 Medical Access Rd 1, Gharb al Dharan, Dharan 34465, Saudi Arabia.; Rolfs A; Center for Biological Signaling Studies (BIOSS), Schänzlestr. 18, Freiburg 79104, Germany.; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Gehlsheimerstr. 20, Rostock 18147, Germany.; Kulik A; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Center for Biological Signaling Studies (BIOSS), Schänzlestr. 18, Freiburg 79104, Germany.; Schulte U; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Center for Biological Signaling Studies (BIOSS), Schänzlestr. 18, Freiburg 79104, Germany.; Logopharm GmbH, Schlossstr. 14, March-Buchheim 79232, Germany.; Colleaux L; INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital, Paris 75015, France.; Abou Jamra R; Institute of Human Genetics, University of Erlangen, Schwabachanlage 10, Erlangen 91054, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Philipp-Rosenthal-Str. 55, 04103 Leipzig, Germany.; Fakler B; Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, Freiburg 79104, Germany.; Center for Biological Signaling Studies (BIOSS), Schänzlestr. 18, Freiburg 79104, Germany.

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

Megahed H; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo, 12311, Egypt.; Nicouleau M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Barcia G; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Department of Genetics, Necker Enfants Malades University Hospital, APHP, 75015, Paris, France.; Medina-Cano D; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Siquier-Pernet K; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.; Parisot M; Genomic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.; Masson C; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.; Nitschké P; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.; Rio M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Imagine Institute, INSERM UMR 1163, Genetics of mitochondrial diseases, 75015, Paris, France.; Department of Genetics, Necker Enfants Malades University Hospital, APHP, 75015, Paris, France.; Bahi-Buisson N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Imagine Institute, INSERM UMR 1163, Embryology and genetics of human malformation, 75015, Paris, France.; Desguerre I; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, 75015, Paris, France.; Munnich A; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Department of Genetics, Necker Enfants Malades University Hospital, APHP, 75015, Paris, France.; Boddaert N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Department of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, 75015, Paris, France.; Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Cantagrel V; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France. vincent.cantagrel@inserm.fr.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France. vincent.cantagrel@inserm.fr.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Saadi A; Service de Neurologie, Etablissement Hospitalier Spécialisé de Ben Aknoun, Université Benyoucef Benkhedda, Alger, Algeria. karimm.saadi@yahoo.fr.; Verny F; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.; Siquier-Pernet K; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.; Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Nitschke P; Bioinformatic Platform, INSERM UMR 1163, Imagine Institute, Paris Descartes- Sorbonne Paris Cité University, Paris, France.; Munnich A; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.; Abada-Dendib M; Service de Neurologie, Etablissement Hospitalier Spécialisé de Ben Aknoun, Université Benyoucef Benkhedda, Alger, Algeria.; Chaouch M; Service de Neurologie, Etablissement Hospitalier Spécialisé de Ben Aknoun, Université Benyoucef Benkhedda, Alger, Algeria.; Abramowicz M; Service de Génétique médicale, Hôpital Erasme-ULB, Université Libre de Bruxelles, Bruxelles, Belgium.; Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Langouët M; INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.; Saadi A; Rieunier G; Moutton S; Siquier-Pernet K; Fernet M; Nitschke P; Munnich A; Stern MH; Chaouch M; Colleaux L

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Barbosa S; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France.; Greville-Heygate S; Wessex Clinical Genetics, University Hospital Southampton National Health Service Foundation Trust, Southampton SO16 5YA, UK.; Bonnet M; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France.; Godwin A; European Xenopus Resource Centre, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DY, UK.; Fagotto-Kaufmann C; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France.; Kajava AV; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France.; Laouteouet D; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France.; Mawby R; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.; Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Hehir-Kwa J; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.; Willems M; Département Génétique Médicale, Centre Hospitalier Régional et Universitaire de Montpellier, Montpellier 34295, France.; Capri Y; Département de Génétique, Centre Hospitalier Universitaire de Paris, Paris 75019, France.; Mehta SG; Department of Clinical Genetics, Cambridge University Hospital Trust, Cambridge CB2 0QQ, UK.; Cox H; West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service Foundation Trust, Birmingham B15 2TG, UK.; Goudie D; Department of Clinical Genetics, Ninewells Hospital, Dundee DD2 1UB, UK.; Vansenne F; Department of Clinical Genetics, University Medical Center, Groningen 9713 GZ Groningen, the Netherlands.; Turnpenny P; Clinical Genetics Department, Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX1 2ED, UK.; Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.; Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.; Lesca G; Service de Génétique, Hospices Civils de Lyon, 69002 Lyon, France.; Hertecant J; Tawam Hospital, PO Box 15258, Al Ain, United Arab Emirates.; Rodriguez D; Service de Neurologie Pédiatrique, Centre de Référence Maladies Rares - Neurogénétique, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, 75012 Paris, France.; Keren B; Département de Génétique (Pr Leguern), Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, 75012 Paris, France.; Gérard M; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen 14000, France.; Putoux A; Service de Génétique, Hospices Civils de Lyon, Bron 69500, France.; Cantagrel V; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France.; Siquier-Pernet K; Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France; Service de Génétique, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Pairs, 75015 Paris, France.; Rio M; Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France; Service de Génétique, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Pairs, 75015 Paris, France.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals National Health Service Trust, Nottingham NG5 1PB, UK.; Steeves M; Mass General Hospital for Children, Boston, MA 02114, USA.; Parker M; Clinical Genetics, Sheffield Children's National Health Service Foundation Trust, Sheffield S10 2TH, UK.; Clement E; Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London WC1N 3JH, UK.; Moutton S; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.; Tran Mau-Them F; INSERM U1231, Service de Génétique des Anomalies du Développement, Burgundy University, F-21000 Dijon, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, University of Strasbourg, 67404 Illkirch, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Guille M; European Xenopus Resource Centre, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DY, UK.; Debant A; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France.; Schmidt S; Centre de Recherche en Biologie Cellulaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique 34293 Montpellier, France. Electronic address: susanne.schmidt@crbm.cnrs.fr.; Baralle D; Wessex Clinical Genetics, University Hospital Southampton National Health Service Foundation Trust, Southampton SO16 5YA, UK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK. Electronic address: d.baralle@soton.ac.uk.

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

Efthymiou, S.; Salpietro, V.; Malintan, N.; Poncelet, M.; Kriouile, Y.; Fortuna, S.; de Zorzi, R.; Payne, K.; Henderson, L.; Cortese, A.; Maddirevula, S.; Alhashmi, N.; Wiethoff, S.; Ryten, M.; Botia, J.; Provitera, V.; Schuelke, M.; Vandrovcova, J.; Walsh, L.; Torti, E.; Iodice, V.; Najafi, M.; Karimiani, E.; Maroofian, R.; Siquier-Pernet, K.; Boddaert, N.; De Lonlay, P.; Cantagrel, V.; Aguennouz, M.; El Khorassani, M.; Schmidts, M.; Alkuraya, F. S.; Edvardson, S.; Nolano, M.; Devaux, J.; Houlden, H.

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2020, 28 SUPPL 1, p438-p439, 2p. Supplement: 1