Zobrazeno 1 - 10
of 37
pro vyhledávání: '"MA North"'
Publikováno v:
Environmental Research Letters, Vol 15, Iss 10, p 103005 (2020)
Over time African cities and their residents have responded to climate impacts in increasingly creative ways, based on local knowledge and available resources. Overviews of adaptation policy, plans and actions have largely been lacking for Africa, pa
Externí odkaz:
https://doaj.org/article/7685b17f4b494b67a7c4cd7bc7d7eb93
Autor:
MA North, Robert Baldwin
Publikováno v:
Fire Technology. 9:245-253
The paper examines the statistical distribution of the number of sprinklers opening during a fire and some of the factors that may influence this distribution. A simple mathematical model, which attempts to explain the form of the distribution, is di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6603ff83540877ffbd7df5b927e05984
https://doi.org/10.1007/bf02626126
https://doi.org/10.1007/bf02626126
Autor:
Morton SU; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Costain G; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., French CE; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Wakeling E; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Szuto A; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Christodoulou J; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Cohn R; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Darras BT; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Wojcik MH; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., D'Gama AM; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Dowling JJ; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Lunke S; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Muntoni F; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Raymond L; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Rowitch D; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Beggs AH; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Stark Z; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL., Agrawal PB; From the Division of Newborn Medicine (S.U.M., M.H.W., A.M.D.G.), Boston Children's Hospital; Department of Pediatrics (S.U.M., M.H.W., A.M.D.G., A.H.B., P.B.A.), Harvard Medical School; The Manton Center for Orphan Disease Research (S.U.M., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital; The Broad Institute of MIT and Harvard (S.U.M., M.H.W., A.H.B., P.B.A.), Cambridge, MA; Division of Clinical and Metabolic Genetics (G.C., R.C.), The Hospital for Sick Children; Program in Genetics and Genome Biology (G.C.,. R.C., J.J.D.), SickKids Research Institute; Department of Paediatrics (G.C., R.C., J.J.D.), Department of Molecular Genetics (G.C., A.S., J.J.D.), University of Toronto, Ontario, Canada; Division of Genetics and Genomics (C.E.F., M.H.W., A.H.B., P.B.A.), Boston Children's Hospital, MA; North East Thames Regional Genetic Service (E.W., F.M.), Great Ormond Street Hospital Trust, London, United Kingdom; Department of Genetic Counselling (A.S.), The Hospital for Sick Children, Toronto, OntarioN, Canada; Murdoch Children's Research Institute and Department of Paediatrics (J.C., S.L., Z.S.), University of Melbourne, Victoria; Discipline of Child and Adolescent Health (J.C.), Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Neurology (B.T.D.), Boston Children's Hospital; Epilepsy Genetics Program (A.M.D.G.), Department of Neurology, Boston Children's Hospital, MA; Division of Neurology (J.J.D.), The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pathology (S.L.), University of Melbourne, Australia; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (F.M.), Great Ormond Street Institute of Child Health, University College London; Departments of Medical Genetics and Paediatrics (L.R., D.R.), University of Cambridge, United Kingdom; Division of Neonatology (D.R.), Department of Pediatrics, UCSF, San Francisco, CA; Australian Genomics Health Alliance (Z.S.); and Division of Neonatology (P.B.A.), Department of Pediatrics, University of Miami and Holtz Children's Hospital, Jackson Health System, FL.
Publikováno v:
Neurology [Neurology] 2025 Jan 14; Vol. 104 (1), pp. e210106. Date of Electronic Publication: 2024 Dec 19.
Autor:
Vezyroglou A; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK. k.vezyroglou@ucl.ac.uk., Akilapa R; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Barwick K; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Koene S; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Brownstein CA; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Holder-Espinasse M; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Fry AE; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Németh AH; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Tofaris GK; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Hay E; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Hughes I; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Mansour S; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Mordekar SR; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Splitt M; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Turnpenny PD; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Demetriou D; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Koopmann TT; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Ruivenkamp CAL; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Agrawal PB; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Carr L; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Clowes V; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Ghali N; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Holder SE; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Radley J; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Male A; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Sisodiya SM; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Kurian MA; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Cross JH; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK., Balasubramanian M; From the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Publikováno v:
Neurology [Neurology] 2022 Oct 04; Vol. 99 (14), pp. e1511-e1526. Date of Electronic Publication: 2022 Jul 18.
Autor:
Post J; Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, LA, Baton Rouge, USA., Langohr IM; Pathobiological Sciences, School of Veterinary Medicine, Louisiana State University, LA, Baton Rouge, USA., Webster CRL; Veterinary Clinical Sciences, Cummings School of Veterinary Medicine, Tufts University, MA, North Grafton, USA., Mottram P; Pathobiological Sciences, School of Veterinary Medicine, Louisiana State University, LA, Baton Rouge, USA., Liu CC; Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, LA, Baton Rouge, USA., Johnston A; Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, LA, Baton Rouge, USA. johnston1@lsu.edu.
Publikováno v:
BMC veterinary research [BMC Vet Res] 2021 Mar 04; Vol. 17 (1), pp. 104. Date of Electronic Publication: 2021 Mar 04.
Autor:
Mazzotta MG; Department of Chemistry, Purdue University, 560 Oval Drive, West Lafayette, Indiana 47907-2084, United States., Putnam AA; Department of Chemistry, Purdue University, 560 Oval Drive, West Lafayette, Indiana 47907-2084, United States., North MA; Department of Chemistry, Purdue University, 560 Oval Drive, West Lafayette, Indiana 47907-2084, United States., Wilker JJ; Department of Chemistry, Purdue University, 560 Oval Drive, West Lafayette, Indiana 47907-2084, United States.; School of Materials Engineering, Purdue University, Neil Armstrong Hall of Engineering, 701 West Stadium Avenue, West Lafayette, Indiana 47907-2045, United States.
Publikováno v:
Journal of the American Chemical Society [J Am Chem Soc] 2020 Mar 11; Vol. 142 (10), pp. 4762-4768. Date of Electronic Publication: 2020 Feb 27.
Autor:
Garrity B; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Berry J; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: jay.berry@childrens.harvard.edu., Crofton C; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Ward E; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Cox J; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Glader L; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bastianelli L; Cerebral Palsy Center, Boston Children's Hospital, Boston, MA., Emans J; Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA., Glotzbecker M; Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA., Emara N; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Salem J; Healthcare Systems Engineering Institute, Northeastern University, Boston, MA; North Shore Medical Center, Salem, MA., Jabur T; Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA., Higgins S; Harvard TH Chan School of Public Health, Boston, MA., Shapiro J; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Singer S; Department of Medicine, Stanford University School of Medicine, Stanford, CA.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2019 Oct; Vol. 213, pp. 149-154. Date of Electronic Publication: 2019 Jun 26.
Autor:
Glicksman JT; Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA.; Department of Otolaryngology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA.; North Shore ENT, Danvers, MA., Parasher AK; Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA.; Department of Otolaryngology-Head and Neck Surgery, University of South Florida, Tampa, FL.; Department of Health Policy and Management, University of South Florida, Tampa, FL., Doghramji L; Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA., Brauer D; Division of Allergy, Asthma, & Immunology, Scripps Clinic and Research Foundation, San Diego, CA., Waldram J; Division of Allergy, Asthma, & Immunology, Scripps Clinic and Research Foundation, San Diego, CA., Walters K; Division of Allergy, Asthma, & Immunology, Scripps Clinic and Research Foundation, San Diego, CA., Bulva J; Division of Allergy, Asthma, & Immunology, Scripps Clinic and Research Foundation, San Diego, CA., Palmer JN; Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA., Adappa ND; Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA., White AA; Division of Allergy, Asthma, & Immunology, Scripps Clinic and Research Foundation, San Diego, CA., Bosso JV; Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA.
Publikováno v:
International forum of allergy & rhinology [Int Forum Allergy Rhinol] 2018 Oct; Vol. 8 (10), pp. 1093-1097. Date of Electronic Publication: 2018 Jul 10.
Autor:
North MA; a Department of Ecosystem and Public Health, Faculty of Veterinary Medicine , University of Calgary , Calgary , Canada., Kinniburgh DW; b Department of Physiology and Pharmacology, Cumming School of Medicine , University of Calgary , Calgary , Canada., Smits JEG; a Department of Ecosystem and Public Health, Faculty of Veterinary Medicine , University of Calgary , Calgary , Canada.
Publikováno v:
Toxicology mechanisms and methods [Toxicol Mech Methods] 2018 May; Vol. 28 (4), pp. 293-301. Date of Electronic Publication: 2017 Dec 07.
Autor:
North MA; Department of Ecosystem & Public Health, Faculty of Veterinary Medicine, University of Calgary , 3280 Hospital Drive NW, Calgary, Alberta, Canada , T2N 4Z6., Rodriguez-Estival J; Department of Ecosystem & Public Health, Faculty of Veterinary Medicine, University of Calgary , 3280 Hospital Drive NW, Calgary, Alberta, Canada , T2N 4Z6., Smits JEG; Department of Ecosystem & Public Health, Faculty of Veterinary Medicine, University of Calgary , 3280 Hospital Drive NW, Calgary, Alberta, Canada , T2N 4Z6.
Publikováno v:
Environmental science & technology [Environ Sci Technol] 2017 Nov 21; Vol. 51 (22), pp. 13427-13435. Date of Electronic Publication: 2017 Oct 20.