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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

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Title: Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Authors: Hardcastle A; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA., Berry AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Gerard AE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sisoudiya SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Tommaso S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Capolino R; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Graziani L; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Neas K; Genetic Health Service NZ, Wellington, New Zealand., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy., Di Gregorio E; Città della Salute e della Scienza University Hospital, Torino, Italy., Wellesley D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hampshire, UK.; University Hospital Southampton, Southampton, Hampshire, UK., Beneteau C; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Joubert M; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., McMullan DJ; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, UK., Dean J; Clinical Genetics Service, Ashgrove House, NHS Grampian, Aberdeen, UK., Giuffrida MG; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Bernardini L; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Varghese V; All Wales Medical Genomics Service, Cardiff, UK., Shannon NL; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Lam WWK; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, Scotland, UK., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, UK., Cole T; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Morton J; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jones MC; University of California, San Diego and Rady Children's Hospital, San Diego, California, USA., Hall R; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Wright M; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Horridge K; South Tyneside and Sunderland NHS Foundation Trust, Sunderland, UK., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chung WK; Department of Pediatrics, Columbia University, New York, USA.; Department of Medicine, Columbia University, New York, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2958-2968. Date of Electronic Publication: 2022 Jul 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: 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
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
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  Data: <searchLink fieldCode="AU" term="%22Hardcastle+A%22">Hardcastle A</searchLink>; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Berry+AM%22">Berry AM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Campbell+IM%22">Campbell IM</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Zhao+X%22">Zhao X</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Liu+P%22">Liu P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Gerard+AE%22">Gerard AE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Sisoudiya+SD%22">Sisoudiya SD</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Hernandez-Garcia+A%22">Hernandez-Garcia A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Loddo+S%22">Loddo S</searchLink>; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Tommaso+S%22">Di Tommaso S</searchLink>; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Dentici+ML%22">Dentici ML</searchLink>; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Capolino+R%22">Capolino R</searchLink>; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Graziani+L%22">Graziani L</searchLink>; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Neas+K%22">Neas K</searchLink>; Genetic Health Service NZ, Wellington, New Zealand.<br /><searchLink fieldCode="AU" term="%22Ferrero+GB%22">Ferrero GB</searchLink>; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy.<br /><searchLink fieldCode="AU" term="%22Brusco+A%22">Brusco A</searchLink>; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Gregorio+E%22">Di Gregorio E</searchLink>; Città della Salute e della Scienza University Hospital, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Wellesley+D%22">Wellesley D</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hampshire, UK.; University Hospital Southampton, Southampton, Hampshire, UK.<br /><searchLink fieldCode="AU" term="%22Beneteau+C%22">Beneteau C</searchLink>; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Joubert+M%22">Joubert M</searchLink>; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Van+Den+Bogaert+K%22">Van Den Bogaert K</searchLink>; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Boogaerts+A%22">Boogaerts A</searchLink>; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22McMullan+DJ%22">McMullan DJ</searchLink>; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, UK.<br /><searchLink fieldCode="AU" term="%22Dean+J%22">Dean J</searchLink>; 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