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Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder.

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第一作者： Daniel,Greene

第一单位： 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.

作者： Daniel,Greene ^[1] ; Rodrigo,Mendez ^[2] ; Jon,Lees ^[3] ; Mafalda,Barbosa ^[4] ; Alessandro,Bruselles ^[5] ; Luigi,Chiriatti ^[6] ; Cecilia,Mancini ^[6] ; Undiagnosed Diseases Network ^[7] ; Enrico Silvio,Bertini ^[8] ; Devon E,Bonner ^[9] ; Thomas A,Cassini ^[9] ; Kimberly M,Ezell ^[8] ; Natalia,Gomez-Ospina ^[9] ; Lynette,Rives ^[10] ; Vandana,Shashi ^[10] ; Rebecca C,Spillmann ^[11] ; Mohamed,Wafik ^[6] ; Marco,Tartaglia ^[8] ; Jonathan A,Bernstein ^[12] ; Andrew D,Mumford ^[2] ; Matthew T,Wheeler ^[13] ; Ernest,Turro

作者单位： 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. ^[1] Department of Medicine, Stanford University, Stanford, CA, USA. ^[2] Bristol Medical School, University of Bristol, Bristol, United Kingdom. ^[3] 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. ^[4] Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy. ^[5] Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[6] Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[7] Department of Pediatrics, Stanford University, Stanford, CA, USA. ^[8] Vanderbilt University Medical Center, Nashville, TN, USA. ^[9] Duke University School of Medicine, Durham, NC, USA. ^[10] Guy's and St Thomas' NHS Foundation Trust, London, UK. ^[11] Bristol Medical School, University of Bristol, Bristol, United Kingdom.;NHS South West Genomic Medicine Service Alliance, Bristol, United Kingdom. ^[12] 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. ^[13]

DOI 10.1101/2025.08.26.25334179

PMID 40909831

发布时间 2026-04-15

基金项目

WT_/Wellcome Trust/United Kingdom R01 HL161365/HL/NHLBI NIH HHS/United States U01 NS134358/NS/NINDS NIH HHS/United States

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Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder.

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Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder.

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