부산대학교 도서관

Groeneweg, S; Peeters, RP; Moran, C; Stoupa, MA; Auriol, F; Tonduti, D; Dica, A; Paone, L; Rozenkova, K; Malikova, J; van der Walt, A; de Coo, IFM; McGowan, A; Lyons, G; Aarsen, RFK; Barca, PD; van Beynu, IM; van der Knoop, MM; Jansen, J; Manshande, M; Lunsing, RJ; Nowak, S; den Uil, CA; Zillikens, MC; Visser, FE; Vrijoeth, P; de Wit, MCY; Wolf, NI; Zandstra, A; Abegaonkar, G; Singh, Y; de Rijke, YB; Medici, M; Bertini, ES; Depoorter, S; Lebl, J; Cappa, M; De Meirleir, L; Krude, H; Craiu, D; Zibordi, F; Petit, IO; Polak, M; Chatterjee, K; Visser, TJ; Visser, WE

Groeneweg, S, Peeters, R P, Moran, C, Stoupa, A, Auriol, F, Tonduti, D, Dica, A, Paone, L, Rozenkova, K, Malikova, J, van der Walt, A, de Coo, I F M, McGowan, A, Lyons, G, Aarsen, F K, Barca, D, van Beynum, I M, van der Knoop, M M, Jansen, J, Manshande, M, Lunsing, R J, Nowak, S, den Uil, C A, Zillikens, M C, Visser, F E, Vrijmoeth, P, de Wit, M C Y, Wolf, N I, Zandstra, A, Ambegaonkar, G, Singh, Y, de Rijke, Y B, Medici, M, Bertini, E S, Depoorter, S, Lebl, J, Cappa, M, de Meirleir, L, Krude, H, Craiu, D, Zibordi, F, Oliver Petit, I, Polak, M, Chatterjee, K, Visser, T J & Visser, W E 2019, 'Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial', The Lancet Diabetes and Endocrinology, vol. 7, no. 9, pp. 695-706. https://doi.org/10.1016/S2213-8587(19)30155-X
Lancet Diabetes & Endocrinology, 7, 9, pp. 695-706

Overwater IE; Rietman AB; van Eeghen AM; de Wit MCY

Therapeutics and Clinical Risk Management, Vol 15, Pp 951-955 (2019)

Hagenaar DA; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; Department of Paediatrics, Erasmus MC, Rotterdam, The Netherlands.; Bindels-de Heus KGCB; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Paediatrics, Erasmus MC, Rotterdam, The Netherlands.; Lubbers K; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; Ten Hoopen LW; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; Rietman AB; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; de Nijs PFA; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; Hillegers MHJ; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; Moll HA; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Paediatrics, Erasmus MC, Rotterdam, The Netherlands.; de Wit MCY; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Neurology and Paediatric Neurology, Erasmus MC, Rotterdam, the Netherlands.; Dieleman GC; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.; Mous SE; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Child- and Adolescent Psychiatry/Psychology, Erasmus MC, Rotterdam, The Netherlands.

Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

Müller AR; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; 's Heeren Loo Care Group, Amersfoort, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; den Hollander B; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; van de Ven PM; Department of Data Science and Biostatistics, University Medical Center Utrecht, Utrecht, The Netherlands.; Roes KCB; Department of Health Evidence, Biostatistics, Radboud University Medical Center, Nijmegen, The Netherlands.; Geertjens L; Child and Adolescent Psychiatry and Psychosocial Care, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam UMC, Amsterdam Neuroscience, Amsterdam Reproduction and Development, N=You Neurodevelopmental Precision Center, Amsterdam, The Netherlands.; Bruining H; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Child and Adolescent Psychiatry and Psychosocial Care, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam UMC, Amsterdam Neuroscience, Amsterdam Reproduction and Development, N=You Neurodevelopmental Precision Center, Amsterdam, The Netherlands.; Levvel, Center for Child and Adolescent Psychiatry, Amsterdam, The Netherlands.; van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Jansen FE; Department of Pediatric Neurology, Brain, University Medical Center Utrecht, Utrecht, The Netherlands.; de Wit MCY; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Ten Hoopen LW; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry/Psychology, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.; Rietman AB; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry/Psychology, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.; Dierckx B; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry/Psychology, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.; Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Boot E; 's Heeren Loo Care Group, Amersfoort, The Netherlands.; The Dalglish Family 22Q Clinic, Toronto, ON, Canada.; Department of Psychiatry & Neuropsychology, Maastricht University Medical Center, Maastricht, the Netherlands.; Brands MMG; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; van Eeghen AM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; 's Heeren Loo Care Group, Amersfoort, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands. a.m.vaneeghen@amsterdamumc.nl.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968559 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-244X (Electronic) Linking ISSN: 1471244X NLM ISO Abbreviation: BMC Psychiatry Subsets: MEDLINE

IE Overwater; AB Rietman; AM van Eeghen; MCY de Wit

Therapeutics and Clinical Risk Management. 15:951-955

Bar C; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Kuchenbuch M; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Barcia G; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Schneider A; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Jennesson M; Department of Pediatrics, American Memorial Hospital, Reims, France.; Le Guyader G; Department of Genetics, Poitiers University Hospital Center, Poitiers Cedex, France.; EA3808-NEUVACOD Neurovascular and Cognitive Disorders Unit, University of Poitiers, Poitiers, France.; Lesca G; Department of Genetics, Lyon Civil Hospices, Lyon, France.; NeuroMyoGène Institute, National Center for Scientific Research, Mixed Unit of Research 5310, National Institute of Health and Medical Research U1217, University of Lyon, Claude Bernard Lyon 1 University, Villeurbanne, France.; Mignot C; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; Montomoli M; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Parrini E; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Isnard H; Pediatric Neurologist, Medical Office, Lyon, France.; Rolland A; Department of Pediatrics, Nantes University Hospital Center, Nantes, France.; Keren B; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; Afenjar A; Department of Genetics and Medical Embryology, Reference Center for Malformations and Congenital Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France.; Dorison N; Pediatric Neurosurgery Department, Rothschild Foundation Hospital, Paris, France.; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Sadleir LG; Department of Pediatrics and Child Health, University of Otago, Wellington, New Zealand.; Breuillard D; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Levy R; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, Paris, France.; Rio M; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Laboratory of Developmental Brain Disorders, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, Sorbonne University, Paris, France.; Dupont S; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Epileptology Unit and Rehabilitation Unit, AP-HP, Pitie-Salpêtrière-Charles Foix Hospital, Paris, France.; Negrin S; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy.; Danieli A; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy.; Scalais E; Pediatric Neurology Unit, Luxembourg Hospital Center, Luxembourg City, Luxembourg.; De Saint Martin A; Department of Pediatric Neurology, Strasbourg University Hospital, Hautepierre Hospital, Strasbourg, France.; El Chehadeh S; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France.; Chelly J; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France.; Poisson A; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, le Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Villeurbanne, France.; Lebre AS; Reims University Hospital Center, Maison Blanche Hospital, Biology Department, Reims, France.; Nica A; Neurology Department, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.; Laboratory of Signal Processing, National Institute of Health and Medical Research Mixed Unit of Research 1099, Rennes, France.; Odent S; Reference Center for Rare Developmental Abnormalities CLAD-Ouest, Rennes University Hospital Center, Rennes, France.; National Center for Scientific Research Mixed Unit of Research 6290, Institute of Genetics and Development of Rennes (IGDR), University of Rennes, Rennes, France.; Sekhara T; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium.; Brankovic V; Clinic for Child Neurology and Psychiatry, Belgrade, Serbia.; Goldenberg A; Reference Center for Developmental Anomalies and Malformation Syndromes, Rouen University Hospital Center, Rouen, France.; Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.; Lederer D; Human Genetic Center, IPG, Gosselies, Belgium.; Maurey H; Department of Pediatric Neurology, AP-HP, Bicêtre University Hospital, Kremlin Bicêtre, France.; Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, Child Neurology Unit, Federico II University, Naples, Italy.; Besmond C; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.; Hubert L; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.; Berquin P; Department of Pediatric Neurology, Amiens-Picardie University Hospital Center, University of Picardy Jules Verne, Amiens, France.; Billette de Villemeur T; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Isidor B; Department of Clinical Genetics, Nantes University Hospital Center, Nantes, France.; Freeman JL; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States.; Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States.; Howell KB; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rodríguez-Sacristán Cascajo A; Pediatric Neurology Unit, Department of Pediatric, Virgen Macarena Hospital, Seville, Spain.; Department of Pediatrics, School of Medicine, University of Seville, Seville, Spain.; Meyer P; Department of Pediatric Neurology, Montpellier University Hospital Center, Montpellier, France.; PhyMedExp, National Institute of Health and Medical Research, U1046, National Center for Scientific Research Mixed Unit of Research 9214, University of Montpellier, Montpellier, France.; Genevieve D; Department of Medical Genetics, Rare Disease, and Personalized Medicine, IRMB, University of Montpellier, National Institute of Health and Medical Research, Montpellier University Hospital Center, Montpellier, France.; Guët A; Department of Pediatrics, Louis-Mourier Hospital, Colombes, France.; Doummar D; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Durigneux J; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; van Dooren MF; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; de Wit MCY; Department of Pediatric Neurology and ENCORE Expertise Center, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands.; Gerard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France.; Marey I; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; Munnich A; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Scheffer IE; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.; Kabashi E; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Nabbout R; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Kwetsie H; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; van Schaijk M; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Van Der Lee S; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Maes-Festen D; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Ten Hoopen LW; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; van Haelst MM; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Coesmans M; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Van Den Berg E; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; De Wit MCY; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Pijnenburg Y; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Aronica E; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Boot E; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.; Van Eeghen AM; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Overwater, IE; Rietman, A; Bindels-de Heus, GCB; Moll, HA; Elgersma, Y; Wit, MCY

European Journal of Paediatric Neurology. 17:S14-S15

Brock S; Department of Pathology, Universitair Ziekenhuis Brussel, Brussels, Belgium Stefanie.Brock@vub.be.; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.; Laquerriere A; Normandy Centre for Genomic and Personalized Medicine, INSERM U1245, Rouen, France.; Department of Pathology, Rouen University Hospital, Rouen, France.; Marguet F; Normandy Centre for Genomic and Personalized Medicine, INSERM U1245, Rouen, France.; Department of Pathology, Rouen University Hospital, Rouen, France.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Hongjie Y; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Baralle D; Human Development and Health, University of Southampton, Southampton, UK.; Vanderhasselt T; Department of Radiology, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Stouffs K; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Keymolen K; Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Kim S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Allen J; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Shaulsky G; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Marcorelle P; Service d'Anatomie Pathologique, Centre Hospitalier Universitaire de Brest; Laboratoire Neurosciences de Brest, Université de Brest, Brest, France.; Aziza J; Department of Pathology, University Institute for Cancer, Toulouse, France.; Villard L; Inserm, Marseille Medical Genetics Center, Aix-Marseille University, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France.; Sacaze E; Department of Pediatrics, Centre Hospitalier Universitaire de Brest, Brest, France.; de Wit MCY; Department of Pediatric Neurology, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Hehr U; Center for Human Genetics, Universitätsklinikum Regensburg, Regensburg, Germany.; Lim D; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, University of Southampton, Southampton, UK.; Mansour S; SW Thames Regional Genetics Service, University of London St George's Molecular and Clinical Sciences Research Institute, London, UK.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Beneteau C; Département de Génétique, Hôpital Universitaire de Nantes, Nantes, France.; UF de Fœtopathologie et Génétique, CHU Nantes, Nantes, France.; Denis-Musquer M; UF de Fœtopathologie et Génétique, CHU Nantes, Nantes, France.; Department of Pathology, CHU Nantes, Nantes, France.; Jansen AC; Pediatric Neurology Unit, Universitair Ziekenhuis Antwerpen, Antwerp, Belgium.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.; Bahi-Buisson N; Pediatric Neurology, Necker Enfants Malades Hospital, Université de Paris, Paris, France.; Embryology and Genetics of Congenital Malformations, Institut Imagine (INSERM UMR-1163), Paris, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands; ENCORE Expertise Center for Genetic Neurocognitive Developmental Disorders, Erasmus, MC, Rotterdam. Electronic address: g.mancini@erasmusmc.nl.; Smits DJ; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Dekker J; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Schot R; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands; ENCORE Expertise Center for Genetic Neurocognitive Developmental Disorders, Erasmus, MC, Rotterdam.; de Wit MCY; Department of Child Neurology, Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, Rotterdam, NL, the Netherlands; ENCORE Expertise Center for Genetic Neurocognitive Developmental Disorders, Erasmus, MC, Rotterdam.; Lequin MH; Department of Radiology, University Medical Center Utrecht, Utrecht, the Netherlands.; Dremmen M; Department of Radiology, Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands; ENCORE Expertise Center for Genetic Neurocognitive Developmental Disorders, Erasmus, MC, Rotterdam.; Brooks AS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; van Ham T; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Verheijen FW; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands; ENCORE Expertise Center for Genetic Neurocognitive Developmental Disorders, Erasmus, MC, Rotterdam.; Fornerod M; Department of Cell Biology, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Dobyns WB; Department of Pediatrics (Genetics), University of Minnesota, 420 Delaware Street SE, MMC75, Minneapolis, MN, 55454, USA.; Wilke M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands; ENCORE Expertise Center for Genetic Neurocognitive Developmental Disorders, Erasmus, MC, Rotterdam.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Smits DJ; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; Schot R; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; de Wit MCY; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; Dremmen MHG; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; Dobyns WB; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; Barkovich AJ; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.; Mancini GMS; Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and Department of Radiology (M.H.G.D.), Sophia Children's Hospital, ErasmusMC University Medical Center Rotterdam, the Netherlands; Department of Pediatrics (W.B.D.), University of Washington; Department of Neurology (W.B.D.), University of Washington, Seattle; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, WA; Department of Human Genetics (W.B.D.), University of Minnesota, Minneapolis; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and ENCORE Expertise Center for Neurodevelopmental Disorders (M.C.Y.W., M.H.G.D., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, the Netherlands.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Magini P; Medical Genetics Unit, S.Orsola-Malpighi Hospital, via Massarenti 9, 40138 Bologna, Italy.; Smits DJ; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; Vandervore L; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands; Vrije Universiteit Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090 Brussels, Belgium.; Schot R; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; Columbaro M; Laboratory of Musculoskeletal Cell Biology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Kasteleijn E; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; van der Ent M; Department of Cell Biology, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; Palombo F; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, 40139 Bologna, Italy.; Lequin MH; Department of Radiology, University medical center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; Dremmen M; Department of Radiology, Sophia Children's hospital, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; de Wit MCY; Department of Child Neurology, Sophia Children's hospital, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Divizia MT; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Striano P; Pediatric Neurology and Muscular diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy; Department of neursciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16126 Genova, Italy.; Ordonez-Herrera N; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.; Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia; Department of Pediatrics, College of Medicine, Qassim University, Qassim 52571, Saudi Arabia.; Al Fares A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia; Department of Pediatrics, College of Medicine, Qassim University, Qassim 52571, Saudi Arabia.; Al Ghamdi M; Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11451, Saudi Arabia.; Rolfs A; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.; Demmers J; Proteomics Center, Room Ee-679A, Erasmus University Medical Center. Wytemaweg 80, 3015 CN Rotterdam, the Netherlands.; Verheijen FW; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; van der Spek PJ; Department of Pathology, Clinical Bioinformatics, ErasmusMC University Medical Center PO Box, 3000CA Rotterdam, the Netherlands.; Seri M; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, via Massarenti 9, 40138 Bologna, Italy.; Jansen AC; Vrije Universiteit Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090 Brussels, Belgium; Pediatric Neurology Unit, UZ Univeristy of Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.; Stottmann RW; Department of Human Genetics, Division of Developmental Biology Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA.; Hufnagel RB; Medical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 10N109, Bethesda, MD 20892, USA.; Hopkin RJ; Department of Human Genetics, Division of Developmental Biology Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati, College of Medicine, 3333 Burnet Ave., ML 4006, Cincinnati, OH 45229, USA.; Aljeaid D; Department of Human Genetics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.; Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.; Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.; Laure-Kamionowska M; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre Polish Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Akleh H; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Stanley V; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA 92093, USA.; Musaev D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA 92093, USA.; Gleeson JG; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA 92093, USA.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' Naples 80131, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.; Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' Naples 80131, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.; Davidov B; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel.; Basel-Salmon L; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.; Bazak L; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel.; Shahar NR; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel.; Bertoli-Avella A; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.; Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Pippucci T; Medical Genetics Unit, S.Orsola-Malpighi Hospital, via Massarenti 9, 40138 Bologna, Italy. Electronic address: tommaso.pippucci@gmail.com.; Fornerod M; Department of Cell Biology, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.; Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.

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

de Wit, MCY; de Coo, IFM; Verbeek, E; Schot, R; Schoonderwoerd, GC; Duran, M; de Klerk, JBC; Huijmans, JGM; Lequin, MH; Verheijen, FW; Mancini, GMS

MOLECULAR GENETICS AND METABOLISM; FEB 2006, 87 2, p102-p106, 5p.

Smith RS; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kenny CJ; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ganesh V; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Jang A; Department of Pathology, Boston Children's Hospital, Boston, MA 02115, USA.; Borges-Monroy R; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Partlow JN; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hill RS; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Shin T; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Chen AY; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Doan RN; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Anttonen AK; The Folkhälsan Institute of Genetics, 00290 Helsinki, Finland; Medical and Clinical Genetics, Neuroscience Center and Research Programs Unit, Molecular Neurology, 00014, University of Helsinki, Helsinki, Finland.; Ignatius J; Department of Clinical Genetics, Turku University Hospital, Turku, 20521, Finland.; Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Bönnemann CG; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Hecht JL; Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.; Salonen O; Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, 00029 HUS, Helsinki, Finland.; Barkovich AJ; Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California San Francisco, San Francisco, CA 94117, USA.; Poduri A; Department of Neurology, Boston Children's Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Wilke M; Department of Clinical Genetics, Erasmus MC Rotterdam 3015CN, Netherlands.; de Wit MCY; Neurogenetics Joint Clinic in Sophia Children's Hospital, Erasmus MC Rotterdam 3015CN, Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus MC Rotterdam 3015CN, Netherlands.; Sztriha L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.; Im K; Division of Newborn Medicine, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Amrom D; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Institute and Hospital; and the Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.; Andermann E; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Institute and Hospital; and the Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.; Paetau R; Children's Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Helsinki, Finland.; Lehesjoki AE; The Folkhälsan Institute of Genetics, 00290 Helsinki, Finland; Medical and Clinical Genetics, Neuroscience Center and Research Programs Unit, Molecular Neurology, 00014, University of Helsinki, Helsinki, Finland.; Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: christopher.walsh@childrens.harvard.edu.; Lehtinen MK; Department of Pathology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: maria.lehtinen@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron

Kahlmann V; Department of Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands; Department of Paediatric Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: vivienne.kahlmann@gmail.com.; Roodbol J; Department of Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands; Department of Paediatric Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: j.roodbol@erasmusmc.nl.; van Leeuwen N; Department of Public Health, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: n.vanleeuwen.1@erasmusmc.nl.; Ramakers CRB; Department of Clinical Chemistry, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: c.ramakers@erasmusmc.nl.; van Pelt D; Department of Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands; Department of Paediatric Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: e.vanpelt@erasmusmc.nl.; Neuteboom RF; Department of Paediatric Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: r.neuteboom@erasmusmc.nl.; Catsman-Berrevoets CE; Department of Paediatric Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: c.catsman@erasmusmc.nl.; de Wit MCY; Department of Paediatric Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: m.c.y.dewit@erasmusmc.nl.; Jacobs BC; Department of Neurology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands; Department of Immunology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands. Electronic address: b.jacobs@erasmusmc.nl.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Visser, MJ; de Wit, MCY; van Aalderen, WMC; Postma, DS; Brand, PLP

PEDIATRIC PULMONOLOGY; JUN 2000, 29 6, p434-p437, 4p.

de Wit, MCY; de Bruin, HG; Eijkenboom, W; Smitt, PAES; van den Bent, MJ

NEUROLOGY; AUG 10 2004, 63 3, p535-p537, 3p.

Oegema R; Departments of Clinical Genetics Neurology Radiology Pediatrics, Erasmus MC, Rotterdam, The Netherlands.; Schot R; de Wit MCY; Lequin MH; Oostenbrink R; de Coo IFM; Mancini GMS

Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

Roodbol J; Department of Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands; Department of Paediatric Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.; Korinthenberg R; Division of Neuropaediatrics and Muscular Disorders, Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.; Venema E; Emergency Department Erasmus MC, University Medical Center Rotterdam, the Netherlands; Department of Public Health, Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.; de Wit MY; Department of Paediatric Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.; Lingsma HF; Department of Public Health, Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.; Catsman-Berrevoets CE; Department of Paediatric Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.; Jacobs BC; Department of Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands; Department of Immunology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands. Electronic address: b.jacobs@erasmusmc.nl.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Overwater IE; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE-TSC Expertise Center, Erasmus Medical Center, Rotterdam, The Netherlands.; Swenker R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van der Ende EL; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; Hanemaayer KB; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van Eeghen AM; ENCORE-TSC Expertise Center, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Pediatrics, Erasmus Medical Center, Rotterdam, The Netherlands.; Lequin MH; Department of Radiology, University Medical Centre Utrecht, Utrecht, The Netherlands.; van den Ouweland AM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Moll HA; ENCORE-TSC Expertise Center, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Pediatrics, Erasmus Medical Center, Rotterdam, The Netherlands.; Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; de Wit MY; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE-TSC Expertise Center, Erasmus Medical Center, Rotterdam, The Netherlands.

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