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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

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Title: De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Authors: Bradbrook SM; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Graham G; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada., Kibaek M; HC Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Dawson K; Department of Genetics, Oakland Medical Center, Oakland, California, USA., Meuter C; Department of Genetics, Oakland Medical Center, Oakland, California, USA., Pepler A; Center for Genomics and Transcriptomics, Praxis für Humangenetik Tübingen, Tübingen, Germany., Besnard T; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Vincent M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Bezieau S; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Bjørgo K; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Amundsen SS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Courtin T; Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Emrick L; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Weisz-Hubshman M; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Mak BC; Department of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Martinez-Agosto J; Department of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Heulin M; Service de Pédiatrie, Assistance Publique - Hôpitaux de Paris, Hôpital Jean-Verdier, Paris, France., Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, Amiens, France., Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France., Schutz S; CHU de Brest, Laboratoire de Génétique Moléculaire, Brest, France.; Université de Brest, INSERM, EFS, UMR1078, GGB, Brest, France., Monin P; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France., Pujalte M; Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France., Januel L; Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France., Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France., Valence MB; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France., Margot H; Department of Medical Genetics, University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Bordeaux, France., Levy J; Genetics Department, Robert Debré Hospital, APHP, Paris, France., Iovino E; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Isidori F; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Montanari F; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Bell L; University of Illinois College of Medicine Peoria, Peoria, Illinois, USA., Burton J; University of Illinois College of Medicine Peoria, Peoria, Illinois, USA., Torti E; GeneDx, LLC, Gaithersburg, Maryland, USA., Wentzensen IM; GeneDx, LLC, Gaithersburg, Maryland, USA., Marcadier J; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Corporate Authors: Undiagnosed Diseases Network
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jan; Vol. 200 (1), pp. 244-252. Date of Electronic Publication: 2025 Sep 11.
Publication Type: Case Reports; Journal Article
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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  Data: De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
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  Data: <searchLink fieldCode="AU" term="%22Bradbrook+SM%22">Bradbrook SM</searchLink>; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Graham+G%22">Graham G</searchLink>; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Carter+MT%22">Carter MT</searchLink>; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kibaek+M%22">Kibaek M</searchLink>; HC Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Fagerberg+C%22">Fagerberg C</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Larsen+MJ%22">Larsen MJ</searchLink>; 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