Genetics in Medicine Open (Jan 2024)
P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
- Sam Bradbrook,
- Gail Graham,
- Melissa Carter,
- Maria Kibaek,
- Martin Larsen,
- Christina Fagerberg,
- Katherine Dawson,
- Cheryl Meuter,
- Alexander Pepler,
- Thomas Besnard,
- Bertrand Isidor,
- Stéphane Bezieau,
- Benjamin Cogné,
- Marie Vincent,
- Katherine Bjorgo,
- Thomas Courtin,
- Lisa Emrick,
- Jill Rosenfeld,
- Undiagnosed Diseases Network,
- Julian Martinez-Agosto,
- Mathilde Heulin,
- Gilles Morin,
- Pauline Monin,
- Louis Januel,
- Marie-Noëlle Bonnet-Dupeyron,
- Mathilde Pujalte,
- Kim Worley,
- Monika Weisz-Hubshman,
- Patricia Dickson,
- Michelle Thompson,
- Julien Marcadier
Affiliations
- Sam Bradbrook
- Department of Medical Genetics, Alberta Children’s Hospital, Calgary, AB, Canada
- Gail Graham
- Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada
- Melissa Carter
- Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada
- Maria Kibaek
- HC Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark
- Martin Larsen
- Department of Clinical Research, University of Southern Denmark, Odense, Denmark
- Christina Fagerberg
- Department of Clinical Research, University of Southern Denmark, Odense, Denmark. Department of Neurology, Odense University Hospital
- Katherine Dawson
- Department of Genetics, Oakland Medical Center, Oakland, CA
- Cheryl Meuter
- Department of Genetics, Oakland Medical Center, Oakland, CA
- Alexander Pepler
- Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen, Tübingen, Germany
- Thomas Besnard
- Service de Génétique Médicale, CHU Nantes, Nantes, France. l’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France
- Bertrand Isidor
- Service de Génétique Médicale, CHU Nantes, Nantes, France. l’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France
- Stéphane Bezieau
- Service de Génétique Médicale, CHU Nantes, Nantes, France. l’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France
- Benjamin Cogné
- Service de Génétique Médicale, CHU Nantes, Nantes, France. l’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France
- Marie Vincent
- Service de Génétique Médicale, CHU Nantes, Nantes, France. l’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France
- Katherine Bjorgo
- Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
- Thomas Courtin
- APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
- Lisa Emrick
- Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX
- Jill Rosenfeld
- Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX
- Undiagnosed Diseases Network
- National Institutes of Health
- Julian Martinez-Agosto
- Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA
- Mathilde Heulin
- Service de Pédiatrie, Assistance Publique – Hôpitaux de Paris, Hôpital Jean-Verdier, Paris, France
- Gilles Morin
- CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, Amiens, France
- Pauline Monin
- Department of Genetics, Hospices Civils de Lyon, Lyon, France
- Louis Januel
- Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France
- Marie-Noëlle Bonnet-Dupeyron
- Consultations de Génétique, Centre Hospitalier de Valence, Valence, France
- Mathilde Pujalte
- Department of Genetics, Hospices Civils de Lyon, Lyon, France
- Kim Worley
- Human Genome Sequencing Center, and Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX
- Monika Weisz-Hubshman
- Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX
- Patricia Dickson
- Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO
- Michelle Thompson
- HudsonAlpha Institute for Biotechnology, Huntsville, AL
- Julien Marcadier
- Department of Medical Genetics, Alberta Children’s Hospital, Calgary, AB, Canada
- Journal volume & issue
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Vol. 2
p. 101322
