부산대학교 도서관

Lionel, AC; Tammimies, K; Vaags, AK; Rosenfeld, JA; Ahn, JW; Merico, D; Noor, A; Runke, CK; Pillalamarri, VK; Carter, MT; Gazzellone, MJ; Thiruvahindrapuram, B; Fagerberg, C; Laulund, LW; Pellecchia, G; Lamoureux, S; Deshpande, C; Clayton-Smith, J; White, AC; Leather, S; Trounce, J; Bedford, HM; Hatchwell, E; Eis, PS; Yuen, RKC; Walker, S; Uddin, M; Geraghty, MT; Nikkel, SM; Tomiak, EM; Fernandez, BA; Soreni, N; Crosbie, J; Arnold, PD; Schachar, RJ; Roberts, W; Paterson, AD; So, J; Szatmari, P; Chrysler, C; Woodbury-Smith, M; Lowry, RB; Zwaigenbaum, L; Mandyam, D; Wei, J; MacDonald, JR; Howe, JL; Nalpathamkalam, T; Wang, ZZ; Tolson, D; Cobb, DS; Wilks, TM; Sorensen, MJ; Bader, PI; An, Y; Wu, BL; Musumeci, SA; Romano, C; Postorivo, D; Nardone, AM; Della Monica, M; Scarano, G; Zoccante, L; Novara, F; Zuffardi, O; Ciccone, R; Antona, V; Carella, M; Zelante, L; Cavalli, P; Poggiani, C; Cavallari, U; Argiropoulos, B; Chernos, J; Brasch-Andersen, C; Speevak, M; Fichera, M; Ogilvie, CM; Shen, YP; Hodge, JC; Talkowski, ME; Stavropoulos, DJ; Marshall, CR; Scherer, SW

Human molecular genetics. 23(10):2752-2768

Melland, H; Bumbak, F; Kolesnik-Taylor, A; Ng-Cordell, E; John, A; Constantinou, P; Joss, S; Larsen, M; Fagerberg, C; Laulund, LW; Thies, J; Emslie, F; Willemsen, M; Kleefstra, T; Pfundt, R; Barrick, R; Chang, R; Loong, L; Alfadhel, M; van der Smagt, J; Nizon, M; Kurian, MA; Scott, DJ; Ziarek, JJ; Gordon, SL; Baker, K

Illum, NO; Gradel, KO; Laulund, LW; Bergstein, KR; Szomlaiski, N; Johansen, MN

European Journal of Paediatric Neurology. 17:S97-S97

Agertoft, L; Laulund, LW; Harrison, LI; Pedersen, S

PEDIATRIC PULMONOLOGY; MAR 2003, 35 3, p192-p199, 8p.

Khalil MR; Department of Gynecology and Obstetrics, Hospital of Lillebaelt, Kolding, Denmark.; Laulund LW; HC Andersen Children's and Youth Hospital, Odense University Hospital, Odense, Denmark.; Aavild Ploug AJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Elle IC; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Fenger-Groen J; Department of Children and Young People, Hospital of Lillebaelt, Kolding, Denmark.

Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE

Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr.; Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France.; Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland.; Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK.; Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK.; Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland.; Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France.; Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK.; Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany.; Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France.; Fluss J; University Hospitals of Geneva, Geneva, Switzerland.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark.; Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France.; Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France.; Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK.; Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, USA.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Smol T; University of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France.; Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.; Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Faivre L; UMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU dijon, Bourgogne, Dijon, France.; Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Bagnasco I; Division of Child Neuropsychiatry, Martini Hospital, Torino, Italy.; Koboldt D; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, Ohio, USA.; Iascone M; Laboratorio Di Genetica Medica, Bergamo, Italy.; Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Levy J; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Verloes A; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ruaud L; Département de Génétique, Hôpital Robert-Debré, Paris, France.

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

Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr.; Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France.; Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland.; Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK.; Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK.; Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland.; Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France.; Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK.; Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany.; Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France.; Fluss J; University Hospitals of Geneva, Geneva, Switzerland.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark.; Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France.; Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France.; Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK.; Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, OH, USA.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Smol T; University of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France.; Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.; Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Faivre L; UMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU dijon, Bourgogne, Dijon, France.; Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Bagnasco I; Division of Child Neuropsychiatry, Martini Hospital, Torino, Italy.; Koboldt D; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Iascone M; Laboratorio Di Genetica Medica, Bergamo, Italy.; Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Levy J; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Verloes A; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ruaud L; Département de Génétique, Hôpital Robert-Debré, Paris, France.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Bogaert E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.; Garde A; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Gautier T; University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences (IAB), 38000 Grenoble, France.; Rooney K; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Duffourd Y; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; LeBlanc P; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.; van Reempts E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.; Tran Mau-Them F; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Au KS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.; Richardson K; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.; Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.; Gatinois V; Unité de Génétique Chromosomique, CHU Montpellier, Montpellier, France.; Geneviève D; Montpellier University, Inserm U1183, Montpellier, France; Reference center for rare disease developmental anomaly malformative syndrome, Department of Medical Genetics, Montpellier Hospital, Montpellier, France.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA.; Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Human Genetics, Department of Clinical Research, Health Faculty, University of Southern Denmark, 5000 Odense, Denmark.; Maxel Juul T; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; El It F; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France.; Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.; Callier P; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Cesario C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Pennamen P; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Naudion S; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Legendre M; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Courdier C; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Trimouille A; INSERM U1211, Laboratoire MRGM, Bordeaux University, Bordeaux, France; Pathology Department, CHU Bordeaux, Bordeaux, France.; Fenzy MD; Service de génétique, CHU de Reims, Reims, France; Service de génétique médicale, CHU de Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Calame D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Yonath H; Internal Medicine A, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.; Musante L; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Montanari F; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Sartor G; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Vancini A; Neonatal Intensive Care Unit, Maggiore Hospital, Bologna, Italy.; Seri M; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.; Besmond C; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Poirier K; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Hubert L; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Hemelsoet D; Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium.; Munnich A; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Philippe C; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Thauvin-Robinet C; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; Centre de Référence Maladies Rares « Déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Faivre L; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Govin J; University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences (IAB), 38000 Grenoble, France.; Dermaut B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium. Electronic address: bart.dermaut@ugent.be.; Vitobello A; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.

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

Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Laulund LW; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Illum N; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Dunkhase-Heinl U; Department of Pediatrics, Hospital of Southern Jutland, Aabenraa, Denmark.; Schrøder HD; Department of Pathology, Odense University Hospital, Odense, Denmark.; Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. Electronic address: christina.fagerberg@rsyd.dk.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Melland H; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia; Melbourne Dementia Research Centre, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Bumbak F; Department of Molecular and Cellular Biochemistry, College of Arts + Sciences, Indiana University Bloomington, Bloomington, IN.; Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.; Ng-Cordell E; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.; John A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.; Constantinou P; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Joss S; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Laulund LW; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Thies J; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Emslie F; South West Thames Regional Genetics Service and St George's University of London, London, United Kingdom.; Willemsen M; Radboud University Medical Center, Nijmegen, The Netherlands.; Kleefstra T; Radboud University Medical Center, Nijmegen, The Netherlands; Vincent van Gogh Centre for Neuropsychiatry, Venray, The Netherlands.; Pfundt R; Radboud University Medical Center, Nijmegen, The Netherlands.; Barrick R; Children's Hospital of Orange County, Orange, CA.; Chang R; Children's Hospital of Orange County, Orange, CA.; Loong L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Alfadhel M; Genetics and Precision Medicine department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; van der Smagt J; Utrecht University Medical Centre, Utrecht, The Netherlands.; Nizon M; Service de Génétique Médicale, CHU de Nantes, INSERM, Université de Nantes, Nantes, France.; Kurian MA; Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Scott DJ; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Ziarek JJ; Department of Molecular and Cellular Biochemistry, College of Arts + Sciences, Indiana University Bloomington, Bloomington, IN.; Gordon SL; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia; Melbourne Dementia Research Centre, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. Electronic address: kate.baker@mrc-cbu.cam.ac.uk.

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

Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Cox SG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Marchione D; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Joiner EF; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; Wilson K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Janssen K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Nair D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Wadley A; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA.; van de Kamp J; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.; Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Dean J; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.; Ross A; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.; Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.; Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.; Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.; Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany.; Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Catarino CB; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Schuette JL; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.; Innis JW; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.; Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Lüttgen S; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.; Strom TM; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Monaghan KG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Yuan ZF; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Bend R; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Hoefele J; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Günthner R; Department of Nephrology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Reutter H; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Radtke K; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Mrokse C; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Helbig KL; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France.; Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Bezieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Kury S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Redon R; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute, Cambridge, MA 02142, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Radiology Department of Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Innes AM; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H8L1, Canada.; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Meyn MS; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA.; Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Kitson H; Department of Pediatrics, University of British Columbia, Vancouver, Canada.; Martin MG; Division of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Palmer CGS; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Papp JC; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Parker NH; David Geffen School of Medicine, Los Angeles, CA 90095, USA.; Sinsheimer JS; Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.; Wan J; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Yoon AJ; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Zheng A; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA.; Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Thomas JM; Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Umana L; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Weiss MM; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.; Gotway G; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Laulund LW; H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Byler M; SUNY Upstate Medical University, Syracuse, NY 13210, USA.; Lebel RR; SUNY Upstate Medical University, Syracuse, NY 13210, USA.; Hurst AC; University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Dean J; University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA.; Norman J; INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Neira J; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada.; Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.; Sellars E; University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Cathey SS; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Brokamp E; Vanderbilt University, Nashville, TN 37203, USA.; Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Snyder M; Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Simon C; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.; Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Crump JG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Chung W; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Garcia B; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Hakonarson HH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bhoje@email.chop.edu.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Nardini N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Caliebe A; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.; Horvath G; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.; Santoro SL; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.; Shuss C; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.; Ziegler A; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.; Bonneau D; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.; Kempers M; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Legius E; Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France.; Schnelle HM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Kersten S; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Ferber MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Dhamija R; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK.; Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Ella Pierpont M; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.; Khattar D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Martin RJ; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Chang VY; Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA.; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA.; Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Kuismin O; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.; Kurki MI; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pietiläinen O; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA.; Palotie A; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; Johnson DS; Sheffield Children's Hospital, Sheffield, UK.; Venborg Pedersen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Laulund LW; Department of Pediatrics, Odense University Hospital, Odense, Denmark.; Lynch SA; University College Dublin and Temple Street Children's Hospital, Dublin, Ireland.; Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Ibitoye R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Van Esch H; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. christiane.zweier@uk-erlangen.de.

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

van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.; Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.; Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.; AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.; Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.; Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.; Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.; Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.; van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.; Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.; Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.; Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.; Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.; Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.; Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.; Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERERISCIII, Murcia, Spain.; Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.; Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.; Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.; Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.; Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.; Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.; Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.; Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.; Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.; Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.; Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Calvo AS; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.; Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.; Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.; Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.; Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.; Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.; Uctepe E; Enva Engineering, Ankara, Turkey.; Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.; Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.; Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.; Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.; Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.; Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.; AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.; Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.; Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.; Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.; Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.; van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.; Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.; Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.; Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.; Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.; Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.; Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.; Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.; Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.; Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.; Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.; Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.; Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.; Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.; Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.; Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.; Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.; Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.; Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Sanchis Calvo A; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.; Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.; Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.; Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.; Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.; Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.; Uctepe E; Enva Engineering, Ankara, Turkey.; Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.; Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.; Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.; Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.

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

Ammentorp J; Health Services Research Unit, Lillebaelt Hospital/IRS University of Southern, Kolding, Denmark. jette.ammentorp@slb.regionsyddanmark.dk; Kofoed PE; Laulund LW

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609811 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2648 (Electronic) Linking ISSN: 03092402 NLM ISO Abbreviation: J Adv Nurs Subsets: MEDLINE