De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

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Title: De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Authors: Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. ghayda.mirzaa@seattlechildrens.org., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France., Popp B; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Guo H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Harripaul R; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA., Tang S; WuXi NextCODE, Cambridge, MA, USA., Bonneau D; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; UMR INSERM 1083 CNRS 6015, Angers, France., Beck A; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., White J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Harris J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Hoyer J; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Thiel CT; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Zeid N; Yale New Haven Health, New Haven, CT, USA., Yang A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Farach LS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA., Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA., Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA., Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA., Velinov M; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA., Ziegler A; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; Service de Génétique Médicale, Centre hospitalier, Le Mans, France., Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France., Gatinois V; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France., Geneviève D; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Rotenberg J; Memorial Hermann Memorial City Medical Center, Houston, TX, USA., Wheeler P; Arnold Palmer Hospital for Children, Orlando, FL, USA., Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Akman CI; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID, USA., Blanchet P; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France., Schillaci LA; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France., Gripp KW; Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA., Mattioli F; Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France., Guyader GL; Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France., Gerard B; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France., Mathieu-Dramard M; Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France., Morin G; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA., Sasanfar R; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA., Ayub M; Department of Psychiatry, Queen's University, Kingston, ON, Canada., Vasli N; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada., Yang S; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Enns GM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA., Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Rowe LJ; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Svihovec S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Agha Z; Department of Biosciences, COMSATS University, Islamabad, Pakistan., Qamar R; Department of Biosciences, COMSATS University, Islamabad, Pakistan., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Martinez-Agosto J; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vincent M; CHU de Nantes, Service de génétique médicale, Nantes, France., Sunderland WJ; University of Washington Foundation Board, University of Washington, Seattle, WA, USA., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Vincent JB; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
Corporate Authors: Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG)
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 538-546. Date of Electronic Publication: 2019 Nov 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1038/s41436-019-0693-9