부산대학교 도서관

Vos N; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; van der Laan L; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Russel PKM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Maas SM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Elting MW; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; van Hagen JM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Lakeman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Rumping L; Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Drie Eikenstraat 655, 2650, Edegem, Belgium.; Bosch DGM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Vitobello A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; Thauvin-Robinet C; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France.; Faivre L; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France.; Nambot S; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, FHU-TRANSLAD, Unité Fonctionnelle Innovation en Diagnostic Génomique Des Maladies Rares, 21000, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLAD, Dijon, France.; Garde A; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», FHU-TRANSLAD, Dijon, France.; Willems M; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France.; Genevieve D; INserm U1183, Department of Clinical Genetics, Montpellier University, 34090 CHU Montpellier, Montpellier, France.; Nicolas G; Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, 76000, Rouen, France.; Busa T; Department of Medical Genetics, Timone Hospital, Marseille, France.; Toutain A; Genetics Department, University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Gérard M; APHP, Department of Genetics, Robert Debré Hospital, 75019, Paris, France.; Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de L'Estran, 50170, Pontorson, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.; Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.; Accadia M; Servizio di Genetica Medica, Ospedale Cardinale G. Panico, Tricase, LE, Italy.; Schwartz CE; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA.; Ounap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON, M2K 1E1, Canada.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Rogers C; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Brusco A; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; Unit of Medical Genetics, Città Della Salute e Della Scienza Hospital, Turin, Italy.; Ferrero GB; Department of Clinical and Biological Science, University of Torino, Turin, Italy.; Spodenkiewicz M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Turin, Italy.; Trajkova S; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Turin, Italy.; McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Mroczkowski HJ; Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, TN, USA.; Division of Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA.; Jansen S; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Donker-Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Duijkers FAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Mannens MMAM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Alders M; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; Henneman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada. bekim.sadikovic@lhsc.on.ca.; van Haelst MM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Department of Paediatrics, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.

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

Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McNiven V; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada.; Cytrynbaum C; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.; Jangjoo M; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.; Harris J; Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.; Graham GE; Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada.; Aul RB; Mackenzie Health, Richmond Hill, ON L4C 4Z3, Canada.; Castiglioni C; Departmento de Neurologica Pediatrica, Clinica Las Condes, Santiago 7591046, Chile.; Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.; Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.; Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford OX3 7HE, UK.; Banos-Pinero B; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.; Mehta S; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.; Sandford R; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.; Dunn C; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.; Mathevet R; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.; van Maldergem L; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.; Piard J; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.; Brischoux-Boucher E; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.; Vitobello A; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France.; Faivre L; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France.; Bournez M; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France.; Tran-Mau F; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France.; Maystadt I; Département de Génétique Clinique, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium.; Fernández-Jaén A; Department of. Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid 28224, Spain.; Alvarez S; Genonics and Medicine, NIMGenetics, Madrid 28108, Spain.; García-Prieto ID; Genonics and Medicine, NIMGenetics, Madrid 28108, Spain.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Center of Excellence for Biomedicine, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.; Rahbeeni Z; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; El-Akouri K; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar.; Al-Mureikhi M; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar.; Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA.; Shashi V; Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA.; Sanchez-Lara PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Roberts A; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Chorin O; Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA.; Evrony GD; Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA.; Kraatari-Tiri M; PEDEGO Research Unit, Medical Research Centre and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Oulu 90220, Finland.; Dudding-Byth T; The University of Newcastle, Newcastle 2308, Australia.; Richardson A; Faculty of Medicine, Department of Pediatrics, BC Children's Hospital and the University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Hunt D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Hamilton L; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Dyack S; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada.; Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Oakland, 3505 Broadway, Oakland, CA 94611, USA.; Rodríguez N; Pediatrician Department, Hospital General Universitario de Alicante Dr. Balmis, Pintor Baeza, 11, 03010 Alicante, Spain.; Sánchez-Martínez R; Internal Medicine Department, Hospital General Universitario de Alicante Dr. Balmis, Institute for Health and Biomedical Research of Alicante, Pintor Baeza, 11, 03010 Alicante, Spain.; Tenorio-Castaño J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium.; Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium.; Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium.; Tirado P; Neuropediatrics Service, La Paz University Hospital, Madrid 28046, Spain.; Carminho Amaro Rodrigues MT; Department of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.; Quteineh L; Department of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.; Innes AM; Alberta Children's Hospital Research Institute for Child and Maternal Health, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA.; Au PYB; Alberta Children's Hospital Research Institute for Child and Maternal Health, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada. Electronic address: billie.au@albertahealthservices.ca.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.

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

Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; Guerrini R; Walsh CA; Clapham, K R; Yu, T W; Ganesh, V S; Barry, B; Chan, Y; Mei, D

Neurology; 1/24/2012, Vol. 78 Issue 4, p269-278, 10p

White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: sue.white@vcgs.org.au.; Bhoj E; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Nellåker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.; Lachmeijer AMA; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, the Netherlands.; Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Li D; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Smith W; Division of Genetics, Department of Paediatrics, Maine Medical Center, Portland, ME 04012, USA.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; McBride A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.; May AS; Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf 40225, Germany.; Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Universität Witten-Herdecke, Datteln 45711, Germany.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, L. Puusepa 2, 51014 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, L. Puusepa 2, 51014 Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, L. Puusepa 2, 51014 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, L. Puusepa 2, 51014 Tartu, Estonia.; van Gassen KLI; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, the Netherlands.; Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 01242, USA.; Ellingwood S; Division of Genetics, Department of Paediatrics, Maine Medical Center, Portland, ME 04012, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Barea J; Rady Children's Specialists of San Diego, San Diego, CA 92123, USA.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Nezarati MM; North York General Hospital, Toronto, ON M2K 1E1, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Newborn Screening Ontario, Ottawa, ON K1H 8L1, Canada.

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

Su JX; Genetics Program, North York General Hospital, Toronto, Canada.; Velsher LS; Genetics Program, North York General Hospital, Toronto, Canada.; Department of Laboratory Medicine, University of Toronto, Toronto, Canada.; Juusola J; GeneDx, Gaithersburg, Maryland, USA.; Nezarati MM; Genetics Program, North York General Hospital, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.

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

Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Kishor Bhagwat P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.; Larson A; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.; Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Bagłaj M; Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland.; Bofferding L; Département de Pédiatrie Néonatologie, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.; Bosanko KB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Bouassida S; Humboldt Clinic, Vivantes Health Network GmbH, Charité Academic Teaching Hospital, Medical University of Berlin, Berlin, Germany.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.; Enchautegui Colon Y; Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.; Garnica AD; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Harr MH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Heck S; Département de Pédiatrie Néonatologie, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes 44093 Cedex 1, Nantes, France.; Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Mar Fan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.; Nezarati MM; Genetics Program, North York General Hospital, University of Toronto, Toronto, Ontario, Canada.; Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; 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Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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

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

Saleh M; The Prenatal Diagnosis, Medical Genetics Program, Department of Obstetrics, Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Miron I; The Prenatal Diagnosis, Medical Genetics Program, Department of Obstetrics, Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Al-Rukban H; The Prenatal Diagnosis, Medical Genetics Program, Department of Obstetrics, Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Chitayat D; The Prenatal Diagnosis, Medical Genetics Program, Department of Obstetrics, Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Nezarati MM; The Prenatal Diagnosis, Medical Genetics Program, Department of Obstetrics, Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada. marjan.nezarati@nygh.on.ca.; Department of Clinical Genetics, North York General Hospital, Toronto, ON, Canada. marjan.nezarati@nygh.on.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada. marjan.nezarati@nygh.on.ca.

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