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

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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, UK., 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., Ferraro F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Bertini E; Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bonner DE; Department of Pediatrics, Stanford University, Stanford, CA, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., 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., Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., O'Donoghue M; Neurology, Nottingham University Hospital NHS Trust, Nottingham, UK., 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., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., 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, UK.; NHS South West Genomic Medicine Service Alliance, Bristol, UK., 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. ernest.turro@mssm.edu.; Department of Medicine, University of Cambridge, Cambridge, UK. ernest.turro@mssm.edu.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.
Corporate Authors: Undiagnosed Diseases Network
Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 774-781. Date of Electronic Publication: 2026 Mar 30.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1546-1718
DOI:10.1038/s41588-026-02539-5