The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

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

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1295-1307. Date of Electronic Publication: 2018 Nov 08.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Autor: Leung GKC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China., Tang VHM; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Gao WW; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Yu MHC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Wong WL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Yang WL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Wong WHS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Ma ACH; Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, China., Leung AYH; Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Jin DY; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Chan KYK; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, China., Allanson J; Department of Paediatrics, Faculty of Medicine, University of Ottawa, Ontario, Canada., Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong, China. dr.ivanlo@gmail.com., Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China. bhychung@hku.hk.; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, China. bhychung@hku.hk.

Publikováno v: Scientific reports [Sci Rep] 2018 Feb 05; Vol. 8 (1), pp. 2421. Date of Electronic Publication: 2018 Feb 05.

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 .

Autor: Mak ASL; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China., Chiu ATG; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Leung GKC; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Mak CCY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Chu YWY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Mok GTK; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Tang WF; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Chan KYK; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China., Tang MHY; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Lau Yim ET; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., So KW; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Tao VQ; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Fung CW; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China., Wong VCN; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China., Uddin M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada., Lee SL; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China., Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada., Kan ASY; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China., Chung BHY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China.

Publikováno v: Molecular autism [Mol Autism] 2017 Jun 26; Vol. 8, pp. 31. Date of Electronic Publication: 2017 Jun 26 (Print Publication: 2017).

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Autor: Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA., Dharmadhikari AV; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA., Akdemir KC; Genomic Medicine Department, MD Anderson Cancer Center, Houston, TX, USA., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Schuette J; Division of Pediatric Anesthesia and Critical Care Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA., Godiwala N; Division of Critical Care Medicine, Children's National Health System, Washington, DC, USA., Yatsenko SA; Department of Obstetrics, Gynecology, and Reproductive Sciences, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Sebastian J; Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Madan-Khetarpal S; Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Surti U; Department of Obstetrics, Gynecology, and Reproductive Sciences, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Abellar RG; Department of Pathology, Columbia University Medical Center, New York, NY, USA., Bateman DA; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Wilson AL; Children's Hospital of New York-Presbyterian, New York, NY, USA., Markham MH; Division of Neonatology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Slamon J; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA., Santos-Simarro F; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Palomares M; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Nevado J; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Lapunzina P; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Chung BH; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Department of Obstetrics and Gynaecology, and Centre for Genomic Sciences, The University of Hong Kong, Hong Kong, China., Wong WL; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Chu YWY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mok GTK; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Kerem E; Pediatric Pulmonary Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Reiter J; Pediatric Pulmonary Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Ambalavanan N; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Cell Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA., Anderson SA; Division of Pediatric Surgery, Department of Surgery, University of Alabama at Birmingham and Children's of Alabama, Birmingham, AL, USA., Kelly DR; Department of Pathology, University of Alabama at Birmingham and Pathology and Laboratory Medicine Service, Children's of Alabama, Birmingham, AL, USA., Shieh J; Division of Medical Genetics, Department of Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Rosenthal TC; Genetics Department, Kaiser Permanente San Jose Medical Center, San Jose, CA, USA., Scheible K; Division of Neonatology, Department of Pediatrics, University of Rochester, Rochester, NY, USA., Steiner L; Division of Neonatology, Department of Pediatrics, University of Rochester, Rochester, NY, USA., Iqbal MA; Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA., McKinnon ML; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Hamilton SJ; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Schlade-Bartusiak K; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., English D; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Hendson G; Department of Pathology, University of British Columbia, Vancouver, Canada., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., DeNapoli TS; Department of Pathology, Children's Hospital of San Antonio, San Antonio, TX, USA., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Wolff DJ; Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA., Wagner CL; Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA., Yeung A; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC, Australia., Francis D; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC, Australia., Fiorino EK; Division of Pediatric Pulmonary Medicine, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA., Edelman M; Division of Pediatric Pathology, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA., Fox J; Division of Medical Genetics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA., Hayes DA; Pediatric Cardiology, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA., Janssens S; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Menten B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Loccufier A; Department of Obstetrics, Gynaecology, and Fertility, AZ St Jan Brugge, Brugge, Belgium., Vanwalleghem L; Department of Anatomopathology, AZ St Jan Brugge, Brugge, Belgium., Moerman P; Department of Pathology, UZ Leuven, Louvain, Belgium., Sznajer Y; Center for Human Genetics, Cliniques Universitaires St-Luc, Universite Catholique de Louvain, Brussels, Belgium., Lay AS; Division of Pediatric Cardiology, Children's Mercy Hospital, Kansas City, MS, USA., Kussmann JL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MS, USA., Chawla J; Division of Paediatric Respiratory and Sleep Medicine, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia., Payton DJ; Division of Anatomical Pathology, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; Pathology Queensland, Brisbane, QLD, Australia., Phillips GE; Division of Anatomical Pathology, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; Pathology Queensland, Brisbane, QLD, Australia., Brosens E; Clinical Genetics Department, Erasmus MC-Sophia, Rotterdam, The Netherlands.; Paediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands., Tibboel D; Paediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands., de Klein A; Clinical Genetics Department, Erasmus MC-Sophia, Rotterdam, The Netherlands., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Fisher R; James Cook University Hospital, Middlesborough, UK., Sebire N; Department of Paediatric Histopathology, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK., Male A; Clinical Genetics Unit, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK., Chopra M; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Pinner J; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Malcolm G; Department of Newborn Care, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Peters G; Cytogenetics Department, The Children's Hospital at Westmead, Westmead, NSW, Australia., Arbuckle S; Histopathology Department, The Children's Hospital at Westmead, Westmead, NSW, Australia., Lees M; Clinical Genetics Unit, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK., Mead Z; Department of Histopathology, Addenbrooke's NHS Trust Pathology Department, Addenbrooke's Hospital, Cambridge, UK., Quarrell O; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Sayers R; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Owens M; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Shaw-Smith C; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Lioy J; Division of Neonatology, The Children's Hospital of Philadelphia, The University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., McKay E; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Spruijt L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospital, London, UK., Thiruchelvam T; Critical Care and Cardiorespiratory Unit, Great Ormond Street Hospital NHS Trust, London, UK., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA., Langston C; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Sen P; Department of Pediatrics, Northwestern University, Chicago, IL, USA., Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA. pawels@bcm.edu.; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. pawels@bcm.edu.; Institute of Mother and Child, Warsaw, Poland. pawels@bcm.edu.

Publikováno v: Human genetics [Hum Genet] 2016 May; Vol. 135 (5), pp. 569-586. Date of Electronic Publication: 2016 Apr 12.