De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.

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Bibliographic Details
Title: De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Authors: Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: hubshman@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., von Hardenberg S; Department of Human Genetics, Hannover Medical University, Hannover, Germany., Bergmann A; Department of Human Genetics, Hannover Medical University, Hannover, Germany., Richter MF; Department of Neonatology, AUF DER BULT- Children's and Youth Hospital, Hannover, Germany., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Stembalska A; Department and Institute of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Hernan RR; Department of Pediatrics, Columbia University, New York, NY., Lim FY; Department of Pediatrics, Columbia University, New York, NY., Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany., Syrbe S; Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Epileptology, Heidelberg University, Medical Faculty, Heidelberg, Germany., Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France., Heide S; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Dawson B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Narayanan V; Arizona Pediatric Neurology and Neurogenetics Associates, Phoenix, AZ., Graves HK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: Blee@bcm.edu.
Corporate Authors: Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101369. Date of Electronic Publication: 2025 Jan 28.
Publication Type: Journal Article
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:10.1016/j.gim.2025.101369