De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
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| Title: | De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. |
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| Authors: | Ha T; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA., Morgan A; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Bartos MN; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Beatty K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Cogné B; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gerber CB; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kopps AM; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Amor DJ; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Nizon M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., Pasquier L; Service de Génétique Médicale, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Siu VM; London Health Sciences Center and Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Tessarech M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Vincent M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Walsh MB; Emory Healthcare, Atlanta, Georgia, USA., Wechsler SB; Departments of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Schnur RE; GeneDx, Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Margot H; Université Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Masotto B; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Palafoll MIV; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Nawaz U; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia., Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63559. Date of Electronic Publication: 2024 Feb 29. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63559 |
