Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

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Bibliographic Details
Title: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Authors: Greene D; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, University of Cambridge, Cambridge, UK., Mendez R; Department of Medicine, Stanford University, Stanford, CA, USA., Lees J; Bristol Medical School, University of Bristol, Bristol, United Kingdom., Barbosa M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Bruselles A; Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Chiriatti L; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bertini ES; Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bonner DE; Department of Pediatrics, Stanford University, Stanford, CA, USA., Cassini TA; Vanderbilt University Medical Center, Nashville, TN, USA., Ezell KM; Vanderbilt University Medical Center, Nashville, TN, USA., Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA., Rives L; Vanderbilt University Medical Center, Nashville, TN, USA., Shashi V; Duke University School of Medicine, Durham, NC, USA., Spillmann RC; Duke University School of Medicine, Durham, NC, USA., Wafik M; Guy's and St Thomas' NHS Foundation Trust, London, UK., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bernstein JA; Department of Pediatrics, Stanford University, Stanford, CA, USA., Mumford AD; Bristol Medical School, University of Bristol, Bristol, United Kingdom.; NHS South West Genomic Medicine Service Alliance, Bristol, United Kingdom., Wheeler MT; Department of Medicine, Stanford University, Stanford, CA, USA., Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, University of Cambridge, Cambridge, UK.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Corporate Authors: Undiagnosed Diseases Network
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Aug 29. Date of Electronic Publication: 2025 Aug 29.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.1101/2025.08.26.25334179