부산대학교 도서관

Aref-Eshghi, E; Bend, EG; Hood, RL; Schenkel, LC; Carere, DA; Chakrabarti, R; Nagamani, SCS; Cheung, SW; Campeau, PM; Prasad, C; Siu, VM; Brady, L; Tarnopolsky, MA; Callen, DJ; Innes, AM; White, SM; Meschino, WS; Shuen, AY; Pare, G; Bulman, DE; Ainsworth, PJ; Lin, H; Rodenhiser, DI; Hennekam, RC; Boycott, KM; Schwartz, CE; Sadikovic, B

Gurvitch R; Wood DA; Tay EL; Leipsic J; Ye J; Lichtenstein SV; Thompson CR; Carere RG; Wijesinghe N; Nietlispach F; Boone RH; Lauck S; Cheung A; Webb JG

Circulation; 9/28/2010, Vol. 122 Issue 13, p1319-1327, 9p

Webb JG; Wood DA; Ye J; Gurvitch R; Masson JB; Rodés-Cabau J; Osten M; Horlick E; Wendler O; Dumont E; Carere RG; Wijesinghe N; Nietlispach F; Johnson M; Thompson CR; Moss R; Leipsic J; Munt B; Lichtenstein SV; Cheung A; et al

Circulation (CIRCULATION), 4/27/2010; 121(16): 1848-1857. (10p)

Tay, Edgar; Aymong, Eve; Wijesinghe, Namal; Nietlispach, Fabian; Gurvitch, Ronen; Wood, DA; Carere, Ronald; Ye, Jian; Cheung, Anson; Webb, John

Journal of the American College of Cardiology (JACC). Mar2010 Supplement, Vol. 55, pA213.E2010-A213.E2010. 1p.

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

Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.; Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.; Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.; Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA.; Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.; Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Poke G; Genetic Health Service New Zealand, Wellington, New Zealand.; Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.; Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.; Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA.; van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.; Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.; McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK.; Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK.; Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy.; Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.; Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy.; Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA.; Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA.; Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.; Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA.; Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA.; Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan.; Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; 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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

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

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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: PubMed not MEDLINE; MEDLINE

Mak DA; Biomolecular Interaction Centre, Maurice Wilkins Centre for Molecular Biodiscovery, MacDiarmid Institute for Advanced Materials and Nanotechnology, and School of Biological Sciences, University of Canterbury, Christchurch, New Zealand.; Department of Electrical and Computer Engineering, MacDiarmid Institute for Advanced Materials and Nanotechnology, Biomolecular Interaction Centre, University of Canterbury, Christchurch, New Zealand.; Dunn S; Digital Life Institute, Maurice Wilkins Centre for Molecular Biodiscovery, School of Biological Sciences, University of Auckland and The Graphics Group and School of Computer Science, University of Auckland, Auckland, New Zealand.; Coombes D; Biomolecular Interaction Centre, Maurice Wilkins Centre for Molecular Biodiscovery, MacDiarmid Institute for Advanced Materials and Nanotechnology, and School of Biological Sciences, University of Canterbury, Christchurch, New Zealand.; Carere CR; Department of Chemical and Process Engineering, Biomolecular Interaction Centre, University of Canterbury, Christchurch, New Zealand.; Allison JR; Digital Life Institute, Maurice Wilkins Centre for Molecular Biodiscovery, Biomolecular Interaction Centre, and School of Biological Sciences, University of Auckland, Auckland, New Zealand.; Nock V; Department of Electrical and Computer Engineering, MacDiarmid Institute for Advanced Materials and Nanotechnology, Biomolecular Interaction Centre, University of Canterbury, Christchurch, New Zealand.; Hudson AO; The Thomas H. Gosnell School of Life Sciences, Rochester Institute of Technology (RIT), Rochester, New York, USA.; Dobson RCJ; Biomolecular Interaction Centre, Maurice Wilkins Centre for Molecular Biodiscovery, MacDiarmid Institute for Advanced Materials and Nanotechnology, and School of Biological Sciences, University of Canterbury, Christchurch, New Zealand.; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.

Publisher: John Wiley & sons Country of Publication: United States NLM ID: 100970605 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-3429 (Electronic) Linking ISSN: 14708175 NLM ISO Abbreviation: Biochem Mol Biol Educ Subsets: MEDLINE