부산대학교 도서관

Musova Z; Hancarova M; Havlovicova M; Pourova R; Hrdlicka M; Kraus J; Trkova M; Stejskal D; Sedlacek Z

Neuropsychiatric Disease and Treatment, Vol Volume 12, Pp 2367-2372 (2016)

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Synodinos JT; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guyader GLE; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Traeger Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; L E Guyader G; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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

Küry S; Stanton JE; van Woerden G; Hsieh TC; Rosenfelt C; Scott-Boyer MP; Most V; Wang T; Papendorf JJ; de Konink C; Deb W; Vignard V; Studencka-Turski M; Besnard T; Hajdukowicz AM; Thiel F; Möller S; Florenceau L; Cuinat S; Marsac S; Wentzensen I; Tuttle A; Forster C; Striesow J; Golnik R; Ortiz D; Jenkins L; Rosenfeld JA; Ziegler A; Houdayer C; Bonneau D; Torti E; Begtrup A; Monaghan KG; Mullegama SV; Volker-Touw CMLN; van Gassen KLI; Oegema R; de Pagter M; Steindl K; Rauch A; Ivanovski I; McDonald K; Boothe E; Dauber A; Baker J; Fabie NAV; Bernier RA; Turner TN; Srivastava S; Dies KA; Swanson L; Costin C; Jobling RK; Pappas J; Rabin R; Niyazov D; Tsai AC; Kovak K; Beck DB; Malicdan M; Adams DR; Wolfe L; Ganetzky RD; Muraresku C; Babikyan D; Sedláček Z; Hančárová M; Timberlake AT; Al Saif H; Nestler B; King K; Hajianpour MJ; Costain G; Prendergast D; Li C; Geneviève D; Vitobello A; Sorlin A; Philippe C; Harel T; Toker O; Sabir A; Lim D; Hamilton M; Bryson L; Cleary E; Weber S; Hoffman TL; Cueto-González AM; Tizzano EF; Gómez-Andrés D; Codina-Solà M; Ververi A; Pavlidou E; Lambropoulos A; Garganis K; Rio M; Levy J; Jurgensmeyer S; McRae AM; Lessard MK; D'Agostino MD; De Bie I; Wegler M; Jamra RA; Kamphausen SB; Bothe V; Busch LM; Völker U; Hammer E; Wende K; Cogné B; Isidor B; Meiler J; Bosc-Rosati A; Marcoux J; Bousquet MP; Poschmann J; Laumonnier F; Hildebrand PW; Eichler EE; McWalter K; Krawitz PM; Droit A; Elgersma Y; Grabrucker AM; Bolduc FV; Bézieau S; Ebstein F; Krüger E

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Battig MR; Center for Applied Genomics, and.; Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain.; Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; March ME; Center for Applied Genomics, and.; Hou C; Center for Applied Genomics, and.; O'Connor N; Center for Applied Genomics, and.; Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, and.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Towne M; Ambry Genetics, Aliso Viejo, California, USA.; Li M; Invitae, San Francisco, California, USA.; Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom.; Faghfoury H; University Health Network, Toronto, Ontario, Canada.; Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA.; Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA.; Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada.; Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA.; Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France.; Maas SM; Department of Human Genetics, Academic Medical Center, and.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.; Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Wilson A; New York Genome Center, New York, New York, USA.; Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France.; Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.; Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA.; Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Greco D; Oasi Research Institute-IRCCS, Troina, Italy.; Arena A; Oasi Research Institute-IRCCS, Troina, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.; Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan.; Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA.; Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and.; Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France.; Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.; Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.; Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France.; Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Halligan RK; Metabolic Clinic, and.; Biswas S; Metabolic Clinic, and.; Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA.; Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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

Vlckova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Zimmermann P; Department of Statistics and Probability, Faculty of Informatics and Statistics, University of Economics, Prague, Czech Republic.; Haberlova J; Department of Pediatric Neurology, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Moslerova V; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Stranecky V; Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Hrdlicka M; Dudova I; Beranova I; Lisy J; Belsan T; Neuwirth J; Komarek V; Faladova L; Havlovicova M; Sedlacek Z; Blatny M; Urbanek T

European Child & Adolescent Psychiatry (EUR CHILD ADOLESC PSYCHIATRY), Jun2005; 14(3): 138-144. (7p)

Hrdlicka M; Komarek V; Propper L; Kulisek R; Zumrova A; Faladova L; Havlovicova M; Sedlacek Z; Blatny M; Urbanek T

European Child & Adolescent Psychiatry (EUR CHILD ADOLESC PSYCHIATRY), 2004; 13(4): 209-213. (5p)

Chowdhury F; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.; Wang L; Baylor Genetics Laboratory, Houston, TX, USA.; Al-Raqad M; Al-Balqa Applied University, Faculty of Medicine, Al-Salt, Jordan.; Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.; Baxová A; Department of Biology and Medical Genetics, 1st Faculty of Medicine and University Hospital, Charles University, Prague, Czech Republic.; Bendová Š; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.; Biamino E; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Cox NJ; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.; Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.; Gunay-Aygun M; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD, USA.; Hančárová M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Heide S; Département de Génétique and CRMR « Déficience Intellectuelle », Hôpital de la Pitié Salpêtrière, APHP Sorbonne Université, Paris, France.; Hoganson G; Department of Medical Genetics, Mercyhealth-Javon Bea Hospital, Rockford, IL, USA.; Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.; Keren B; Département de Génétique and CRMR « Déficience Intellectuelle », Hôpital de la Pitié Salpêtrière, APHP Sorbonne Université, Paris, France.; Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Kubota K; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.; Lemons JM; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Magriña MA; Medical Specialties Unit from City Hall São Jose dos Campos, São Paulo, Brazil.; Mark PR; Division of Medical Genetics and Genomics, Spectrum Health, Grand Rapids, MI, USA.; McDonald MT; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Montgomery S; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Morley GM; Department of Medical Genetics, Mercyhealth-Javon Bea Hospital, Rockford, IL, USA.; Ohnishi H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Rodriguez-Buritica D; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.; Sedláček Z; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.; Schatz K; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD, USA.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Walia JS; Department of Pediatrics, Division of Medical Genetics, Kingston General Hospital, Kingston, ON, Canada.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Kawakami K; Laboratory of Molecular and Developmental Biology, National Institute of Genetics, Mishima, Japan.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Siu VM; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.; Children's Health Research Institute, London, ON, Canada.; Bi W; Baylor Genetics Laboratory, Houston, TX, USA. wbi@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. wbi@bcm.edu.; Balci TB; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. Tugce.Balci@lhsc.on.ca.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada. Tugce.Balci@lhsc.on.ca.; Children's Health Research Institute, London, ON, Canada. Tugce.Balci@lhsc.on.ca.

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

Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA.; Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; Earl DL; Seattle Children's, Seattle, WA 98105, USA.; Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia.; Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.; Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France.; Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia.; Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.; Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.; Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria.; Funari T; GeneDx, Gaithersburg, MD 20877, USA.; Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.; Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland.; Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Kronn D; New York Medical College, Valhalla, NY 10595, USA.; Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia.; Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia.; Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland.; Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway.; Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA.; Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.; Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Rhodes L; GeneDx, Gaithersburg, MD 20877, USA.; Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.; Takenouchi T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Tanaka AJ; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.; Taska-Tench H; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Tønne E; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vitiello G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.; Vlčková M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Uehara T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Nava C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Yalcin B; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France.; Kosaki K; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Mundlos S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.; Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland. Electronic address: alexandre.reymond@unil.ch.

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