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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

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Title: A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Authors: van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Dworschak GC; Department of Pediatrics, Children's Hospital, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, Bonn, Germany., Brosens E; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands., Reutter HM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology, Children's Hospital, University Hospital Bonn, Bonn, Germany., Marcelis CLM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Kurtas NE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Steehouwer M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Dunwoodie SL; Victor Chang Cardiac Research Institute, UNSW Sydney, Sydney, NSW, Australia., Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Märzheuser S; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany., Schwarzer N; SoMA e.V., Self-Help Organization for People With Anorectal Malformation, Munich, Germany., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands., de Klein A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands., Sloots CEJ; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands., Tibboel D; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands., Brisighelli G; Department of Paediatric Surgery, Chris Hani Baragwanath Academic Hospital, Johannesburg, South Africa.; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Morandi A; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Bates MD; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States., Levitt MA; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, United States., Peña A; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, International Center for Colorectal Care, Children's Hospital Colorado, University of Colorado, Aurora, CO, United States., de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Source: Frontiers in pediatrics [Front Pediatr] 2020 Jun 23; Vol. 8, pp. 310. Date of Electronic Publication: 2020 Jun 23 (Print Publication: 2020).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
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  Data: A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
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  Data: <searchLink fieldCode="AU" term="%22van+de+Putte+R%22">van de Putte R</searchLink>; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Dworschak+GC%22">Dworschak GC</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Brosens+E%22">Brosens E</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Reutter+HM%22">Reutter HM</searchLink>; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology, Children's Hospital, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Marcelis+CLM%22">Marcelis CLM</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Acuna-Hidalgo+R%22">Acuna-Hidalgo R</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Kurtas+NE%22">Kurtas NE</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Steehouwer+M%22">Steehouwer M</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Dunwoodie+SL%22">Dunwoodie SL</searchLink>; Victor Chang Cardiac Research Institute, UNSW Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Schmiedeke+E%22">Schmiedeke E</searchLink>; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Märzheuser+S%22">Märzheuser S</searchLink>; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Schwarzer+N%22">Schwarzer N</searchLink>; SoMA e.V., Self-Help Organization for People With Anorectal Malformation, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Brooks+AS%22">Brooks AS</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Klein+A%22">de Klein A</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Sloots+CEJ%22">Sloots CEJ</searchLink>; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Tibboel+D%22">Tibboel D</searchLink>; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Brisighelli+G%22">Brisighelli G</searchLink>; Department of Paediatric Surgery, Chris Hani Baragwanath Academic Hospital, Johannesburg, South Africa.; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Morandi+A%22">Morandi A</searchLink>; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink>; Medical Genetic Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bates+MD%22">Bates MD</searchLink>; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.<br /><searchLink fieldCode="AU" term="%22Levitt+MA%22">Levitt MA</searchLink>; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, United States.<br /><searchLink fieldCode="AU" term="%22Peña+A%22">Peña A</searchLink>; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, International Center for Colorectal Care, Children's Hospital Colorado, University of Colorado, Aurora, CO, United States.<br /><searchLink fieldCode="AU" term="%22de+Blaauw+I%22">de Blaauw I</searchLink>; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Roeleveld+N%22">Roeleveld N</searchLink>; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Rooij+IALM%22">van Rooij IALM</searchLink>; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
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