부산대학교 도서관

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

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: In Process; MEDLINE

Long S; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; Schofield D; GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.; Kraindler J; GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.; Vink R; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; Ross K; Genetics and Molecular Pathology, Centre of Cancer Biology, South Australia Pathology, Adelaide, South Australia, Australia.; Hart N; GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.; Evans H; Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Discipline of Paediatrics, UNSW Sydney, Sydney, New South Wales, Australia.; Wilson A; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; Hyett J; Feto-Maternal Unit, South Western Sydney Local Health District, Sydney, New South Wales, Australia.; Department of Obstetrics and Gynaecology, Western Sydney University, Sydney, New South Wales, Australia.; Wakefield CE; Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Discipline of Paediatrics, UNSW Sydney, Sydney, New South Wales, Australia.; Kelada L; Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Discipline of Paediatrics, UNSW Sydney, Sydney, New South Wales, Australia.; Scott H; Genetics and Molecular Pathology, Centre of Cancer Biology, South Australia Pathology, Adelaide, South Australia, Australia.; Lunke S; Royal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Wall M; Royal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Buckley MF; New South Wales Health Pathology Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Fernihough G; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; McGillivray G; Royal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; New South Wales Health Pathology Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.

Publisher: Wiley-Blackwell Country of Publication: Australia NLM ID: 0001027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-828X (Electronic) Linking ISSN: 00048666 NLM ISO Abbreviation: Aust N Z J Obstet Gynaecol Subsets: MEDLINE

Justice, Cristina M; Yagnik, Garima; Kim, Yoonhee; Peter, Inga; Jabs, Ethylin Wang; Erazo, Monica; Ye, Xiaoqian; Ainehsazan, Edmond; Shi, Lisong; Cunningham, Michael L; Kimonis, Virginia; Roscioli, Tony; Wall, Steven A; Wilkie, Andrew O M; Stoler, Joan; Richtsmeier, Joan T; Heuzé, Yann; Sanchez-Lara, Pedro A; Buckley, Michael F; Druschel, Charlotte M

Nature Genetics. Dec2012, Vol. 44 Issue 12, p1360-1364. 5p. 1 Chart, 2 Graphs.

Kamsteeg, Erik-Jan; Kress, Wolfram; Catalli, Claudio; Hertz, Jens M; Witsch-Baumgartner, Martina; Buckley, Michael F; van Engelen, Baziel G M; Schwartz, Marianne; Scheffer, Hans

European Journal of Human Genetics. Dec2012, Vol. 20 Issue 12, p1203-1208. 6p. 3 Charts, 2 Graphs.

Roscioli, Tony; Kamsteeg, Erik-Jan; Buysse, Karen; Maystadt, Isabelle; van Reeuwijk, Jeroen; van den Elzen, Christa; van Beusekom, Ellen; Riemersma, Moniek; Pfundt, Rolph; Vissers, Lisenka E L M; Schraders, Margit; Altunoglu, Umut; Buckley, Michael F; Brunner, Han G; Grisart, Bernard; Zhou, Huiqing; Veltman, Joris A; Gilissen, Christian; Mancini, Grazia M S; Delrée, Paul

Nature Genetics. May2012, Vol. 44 Issue 5, p581-585. 5p.

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Kouvelakis, Georges; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klämbt, Verena; Soliman, Neveen A; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Häffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Buckley, Michael F; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias; Pachlopnik Schmid, Jana

Journal of Allergy and Clinical Immunology. 148:381-393

Forwood C; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Ashton K; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Zhu Y; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Zhang F; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Dias KR; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Standen K; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Evans CA; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Carey L; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Cardamone M; Sydney Children's Hospital, Randwick, Australia.; School of Women's and Children's Health, UNSW, Sydney, Australia.; Shalhoub C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; Katf H; Sydney Children's Hospital, Randwick, Australia.; Riveros C; Bioinformatics, Hunter Medical Research Institute, Newcastle, Australia.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.; Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.; Robinson PN; JAX Center for Precision Genetics, The JAX Cancer Center, Farmington, Connecticut, USA.; Dudding-Byth T; Genetics of Learning Disability (GoLD) Service, Waratah, Australia.; Sadikovic B; London Health Sciences Centre, Verspeeten Clinical Genome Centre, Western University, London, Canada.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.; School of Women's and Children's Health, UNSW, Sydney, Australia.; Buckley MF; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Roscioli T; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; School of Clinical Medicine, UNSW, Sydney, Australia.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Thomas-Wilson A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Schacht JP; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, New York, USA.; Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Blaser S; Department of Diagnostic Imaging, Division of Pediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Santos FJR; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Glaser K; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Caffo A; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.; Henderson LB; GeneDx, Gaithersburg, Maryland, USA.; Zhang F; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.; Zhu Y; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.; Di Corleto E; Maternal Fetal Medicine Unit, Gold Coast University Hospital, Gold Coast, Queensland, Australia.; da Silva Costa F; Maternal Fetal Medicine Unit, Gold Coast University Hospital, Gold Coast, Queensland, Australia.; School of Medicine and Dentistry, Griffith University, Gold Coast, Queensland, Australia.; Vink R; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Alkhunaizi E; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Russell L; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Buckley MF; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.; Roscioli T; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Pereira EM; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, New York, USA.; Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.

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

De Hayr L; School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; National PTSD Research Centre, Thompson Institute, Birtinya, QLD, Australia.; Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Dias KR; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; Long J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Begemann A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Moir RD; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY.; Willis IM; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY.; Mocera M; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Siegel G; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Evans CA; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Zhu Y; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Zhang F; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Field M; Genetics of Learning Disability Service, John Hunter Hospital, Waratah, NSW, Australia.; Ma A; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Adès L; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Josephi-Taylor S; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Zaki MS; National Research Centre, Clinical Genetics Department, Human Genetics and Genome Research Institute, Cairo, Egypt.; Tomoum H; Ain Shams University, Department of Pediatrics, Cairo, Egypt.; Gregor A; Inselspital, Bern University Hospital, University of Bern, Department of Human Genetics, Bern, Switzerland; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Laube J; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Prince Sultan Military Medical City, Department of Pediatrics, Riyadh, Saudi Arabia.; Maroofian R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, United Kingdom.; Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Gleeson JG; University of California, Department of Neurosciences, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Zweier C; Inselspital, Bern University Hospital, University of Bern, Department of Human Genetics, Bern, Switzerland; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Coll-Tané M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland; ITINERARE - University of Zürich Research Priority Program, Zürich, Switzerland; University of Zürich and ETH Zürich, Neuroscience Center Zürich, Zürich, Switzerland.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Harvey RJ; School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; National PTSD Research Centre, Thompson Institute, Birtinya, QLD, Australia. Electronic address: rharvey2@usc.edu.au.

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

Strong A; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Rao S; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.; von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Li D; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Cox LL; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.; Lee PC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Zhang LQ; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.; Awotoye W; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa, USA.; Diamond T; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gold J; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkurumah University of Science and Technology, Kumasi, Ghana.; Hakonarson H; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hing A; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Loomes K; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Martin N; Division of Clinical & Metabolic Genetics and Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Marazita ML; Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics School of Dental Medicine, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Mononen T; Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland.; Piccoli D; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Raskin S; Assistance Center for Cleft Lip and Palate (CAIF), Curitiba, Parana, Brazil.; Scherer SW; The Centre for Applied Genomics and Department of Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Sobriera N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Vaccaro C; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wang X; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Watson D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Weksberg R; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical & Metabolic Genetics, Department of Pediatrics, and Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Bhoj E; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Murray JC; Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.; Lidral AC; Lidral Orthodontics, Rockford, Michigan, USA.; Butali A; Departments of Oral Pathology, Radiology and Medicine, College of Dentistry & Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.; Buckley MF; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Roscioli T; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Kensington, New South Wales, Australia.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Seaver LH; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA.; Prows CA; Divisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Stottmann RW; Divisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Steve & Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University School of Medicine, Columbus, Ohio, USA.; Cox TC; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.; Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.

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

Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.; Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.; Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Zhu Y; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; The Genetics of Learning Disability Service, Waratah, NSW, Australia.; Zhang F; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Standen K; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Clinical School, Royal North Shore Hospital, Sydney, NSW, Australia.; Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Sandaradura SA; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia.; Smith J; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Kamien B; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia.; Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia.; Regan M; Monash Genetics, Monash Health, Melbourne, VIC, Australia.; McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Institut Hospital del Mar d'Investigacions Mediques (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; Women's and Children's Hospital, South Australian Health and Medical Research Institute & University of Adelaide, Adelaide, SA, Australia.; Krzesinski E; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Hunter MF; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Akesson L; Melbourne Pathology, Melbourne, VIC, Australia; Department of Pathology, The Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia.; Fennell AP; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Boughtwood T; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.; Ewans LJ; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia.; Kerkhof J; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada.; Lucas C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Carey L; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; French H; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.; Rapadas M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; Cliffe C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Elakis G; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Kirk EP; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia.; Dudding-Byth T; The Genetics of Learning Disability Service, Waratah, NSW, Australia.; Fletcher J; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Walsh R; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.; Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.; Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Meldrum C; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia.; Cliffe S; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia.; Wall M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; North K; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Field M; The Genetics of Learning Disability Service, Waratah, NSW, Australia.; Sadikovic B; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia. Electronic address: tony.roscioli@health.nsw.gov.au.

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

Lunke S; Australian Genomics Health Alliance, Parkville, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Eggers S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Wilson M; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; University of Sydney, Sydney, Australia.; Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; Barnett CP; Women's and Children's Hospital, North Adelaide, Australia.; Pinner J; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.; University of New South Wales, Sydney, Australia.; Sandaradura SA; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; University of Sydney, Sydney, Australia.; Buckley MF; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Krzesinski EI; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.; de Silva MG; Australian Genomics Health Alliance, Parkville, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Boggs K; Australian Genomics Health Alliance, Parkville, Australia.; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.; Mowat D; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.; University of New South Wales, Sydney, Australia.; Kirk EP; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.; University of New South Wales, Sydney, Australia.; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Adès LC; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; University of Sydney, Sydney, Australia.; Akesson LS; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Monash Genetics, Monash Health, Melbourne, Australia.; Amor DJ; University of Melbourne, Melbourne, Australia.; Royal Children's Hospital, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Ayres S; Australian Genomics Health Alliance, Parkville, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Baxendale A; Women's and Children's Hospital, North Adelaide, Australia.; Borrie S; Women's and Children's Hospital, North Adelaide, Australia.; Bray A; Australian Genomics Health Alliance, Parkville, Australia.; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Chan CY; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.; Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Cliffe C; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Edwards M; Hunter Genetics, Newcastle, Australia.; Department of Paediatrics, School of Medicine, University of Western Sydney, Sydney, Australia.; Elakis G; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Fahey MC; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.; Fennell A; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.; Fowles L; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; University of Queensland, Brisbane, Australia.; Howell KB; University of Melbourne, Melbourne, Australia.; Royal Children's Hospital, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Hunt L; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; University of Queensland, Brisbane, Australia.; Hunter MF; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.; Jones KJ; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; University of Sydney, Sydney, Australia.; King S; Australian Genomics Health Alliance, Parkville, Australia.; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide.; Kumble S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Lang S; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Le Moing M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Ma A; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; University of Sydney, Sydney, Australia.; Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Quinn MCJ; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; Richards A; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Richmond CM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Riseley J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Rodgers J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; Sachdev R; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.; Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Schlapbach LJ; Paediatric Critical Care Research Group, Child Health Research Centre, the University of Queensland and Queensland Children's Hospital, Brisbane, Australia.; Smith J; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.; University of Sydney, Sydney, Australia.; Springer A; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Temple SL; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Theda C; University of Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Royal Women's Hospital, Melbourne, Australia.; Vasudevan A; Royal Women's Hospital, Melbourne, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Monash Genetics, Monash Health, Melbourne, Australia.; Zhu Y; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Martyn M; Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia.; Best S; Australian Genomics Health Alliance, Parkville, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Australian Institute of Health Innovation, Macquarie University, Sydney.; Roscioli T; University of New South Wales, Sydney, Australia.; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.; Christodoulou J; Australian Genomics Health Alliance, Parkville, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; University of Sydney, Sydney, Australia.; Stark Z; Australian Genomics Health Alliance, Parkville, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.

Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Selvanathan A; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, Sydney 2031, Australia.; Discipline of Child and Adolescent Health, University of Sydney, Sydney 2031, Australia.; Nixon CY; Canterbury Health Laboratories, Canterbury District Health Board, Christchurch 8011, New Zealand.; Zhu Y; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, Sydney 2031, Australia.; Genetics of Learning Disability Service, Waratah, Newcastle 2298, Australia.; Scietti L; The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.; Forneris F; The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.; Uribe LMM; Department of Orthodontics & the Iowa Institute for Oral and Craniofacial Research, University of Iowa, Iowa, IA 52242, USA.; Lidral AC; Lidral Orthodontics, Rockford, MI 49341, USA.; Jezewski PA; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Mulliken JB; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA 02215, USA.; Harvard Medical School, Boston, Massachusetts, MA 02115, USA.; Murray JC; Department of Pediatrics, University of Iowa, Iowa, IA 52242, USA.; Buckley MF; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, Sydney 2031, Australia.; Cox TC; Departments of Oral & Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MI 64110, USA.; Roscioli T; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, Sydney 2031, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital - Randwick, Sydney 2031, Australia.; Prince of Wales Clinical School, University of New South Wales, Sydney 2031, Australia.; NeuRA, University of New South Wales, Kensington, Sydney 2031, Australia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Chopra, Maya; Lawson, John A; Wilson, Meredith; Kennedy, Sean E; Taylor, Peter; Buckley, Michael F; Wargon, Orli; Parasivam, Gayathri; Camphausen, Christoph; Yates, Deborah; Mowat, David

Journal of Paediatrics and Child Health. Oct 01, 2011 47(10):711-716

Ewans, Lisa J; Schofield, Deborah; Shrestha, Rupendra; Zhu, Ying; Gayevskiy, Velimir; Ying, Kevin; Walsh, Corrina; Lee, Eric; Kirk, Edwin P; Colley, Alison; Ellaway, Carolyn; Turner, Anne; Mowat, David; Worgan, Lisa; Freckmann, Mary-Louise; Lipke, Michelle; Sachdev, Rani; Miller, David; Field, Michael; Dinger, Marcel E; Buckley, Michael F; Cowley, Mark J; Roscioli, Tony

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(12):1564-1574

Ladwig, Denise; Mowat, David; Tobias, Vivienne; Taylor, Peter J; Buckley, Michael F; McNally, Glenn; Challis, Daniel

Australian & New Zealand Journal of Obstetrics & Gynaecology; Feb2002, Vol. 42 Issue 1, p85-88, 4p

Taylor, Peter J; Maroulis, Sarah; Mullan, Glenda L; Pedersen, Robyn L; Baumli, Aurora; Elakis, George; Piras, Sara; Walsh, Corrina; Prósper-Gutiérrez, Benito; De La Puente-Alonso, Fernando; Bell, Christopher G; Mowat, David R; Johnston, Heather M; Buckley, Michael F

JOURNAL OF MEDICAL GENETICS. Jun 01, 2007 44(6):368-372

Kuroda Y; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Iwata-Otsubo A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Dias KR; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, University of New South Wales, Kensington, NSW, Australia.; Temple SEL; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Nagao K; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.; De Hayr L; School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; Sunshine Coast Health Institute, Birtinya, QLD, Australia.; Zhu Y; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Isobe SY; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.; Nishibuchi G; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.; Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Fujita Y; Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Suita, Japan.; Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Baker SW; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.; Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Harman A; Transgenic core, The Children's Hospital of Philadelphia, Philadelphia, PA.; Keena BA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Kazama I; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Subramanian GM; Paediatric Neurology Unit, John Hunter Children's Hospital, New Lambton Heights, NSW, Australia.; Manickam K; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Schmalz B; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Latsko M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Edwards M; Hunter Genetics, Newcastle, NSW, Australia; University of Western Sydney School of Medicine, Sydney, NSW, Australia.; Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, University of New South Wales, Kensington, NSW, Australia.; Dulik MC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Buckley MF; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Yamashita T; Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Suita, Japan.; O'Brien WT; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Harvey RJ; School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; Sunshine Coast Health Institute, Birtinya, QLD, Australia.; Obuse C; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.; Roscioli T; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, University of New South Wales, Kensington, NSW, Australia.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, Japan; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX. Electronic address: kosuke.izumi@UTsouthwestern.edu.

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

Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.; Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.; Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark.; Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark.; Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.; Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA.; Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.; Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.; Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.; Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain.; Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal.; Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.; Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.; Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.; Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.; Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.; Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.; Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.; Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.; Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.; Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA.; Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands.; Potgieter ST; Laurentius Hospital, Roermond, the Netherlands.; Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.; Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.; Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.; Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.; Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland.; Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.; Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.; Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.; Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.; Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.; Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.; Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.; Spranger S; Practice of Human Genetics, Bremen, Germany.; Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy.; Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia.; Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia.; Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia.; Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK.; Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.; Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.; Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA.; Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany.; Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France.; Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.; Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.; Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.; Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.; Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca.; Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

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

Serey-Gaut M; Centre de génétique humaine, Université de Franche-Comté, Besançon, France. Electronic address: sereymargaux@gmail.com.; Cortes M; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Makrythanasis P; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Biomedical Research Foundation of the Academy of Athens, Athens, Greece.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Sullivan JA; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Asleh AN; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Mitra J; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA.; Dar MA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; McNamara A; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Shashi V; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Dugan S; Providence Medical Group Genetic Clinics, Spokane, WA, USA.; Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Cabrol C; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.; Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.; Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Computer-Aided Molecular Engineering, Department of Oncology, Ludwig Institute for Cancer Research Lausanne Branch, University of Lausanne, Lausanne, Switzerland.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France.; Akdemir ZC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; University Texas Health Science Center, Houston, TX 77030, USA.; Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Dibra HK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Byrd PJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.; Posey J; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Westman R; Providence Medical Group Genetic Clinics, Spokane, WA, USA.; Jungbluth C; Providence Medical Group Genetic Clinics, Spokane, WA, USA.; Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Evans CA; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia.; Lemire G; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; VanNoy GE; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Donnell-Luria A; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Mau-Them FT; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Juven A; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.; Nixon CY; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia.; Zhu Y; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Ha T; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA.; Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Thauvin C; INSERM UMR1231 GAD, Bourgogne Franche-Comté University, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.; Essien Umanah GK; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France; Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Dawson VL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Dawson TM; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Antonarakis SE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.

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