Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

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Title: Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.
Authors: Mendez R; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA, USA. Electronic address: mendezh@stanford.edu., Arriaga TM; Department of Genetics, Stanford University, Stanford, CA, USA., Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Emami S; Department of Genetics, Stanford University, Stanford, CA, USA., Levy RJ; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA., Alsagheir A; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alhaddad B; Lifera Omics, Riyadh, Saudi Arabia., Bakur K; Lifera Omics, Riyadh, Saudi Arabia., Ungar RA; Department of Genetics, Stanford University, Stanford, CA, USA; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, USA., Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Miller AM; Department of Pathology, Stanford University, Stanford, CA, USA., Nguyen J; Department of Pathology, Stanford University, Stanford, CA, USA., Smith KS; Department of Pathology, Stanford University, Stanford, CA, USA., Scott SA; Department of Pathology, Stanford University, Stanford, CA, USA; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Liao L; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Marwaha S; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA, USA., Ward A; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA; Frameshift Labs, Cambridge, MA, USA., Novacic D; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Alkuraya FS; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA; Department of Pathology, Stanford University, Stanford, CA, USA., Wheeler MT; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA, USA. Electronic address: wheelerm@stanford.edu.
Corporate Authors: Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases Consortium
Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100588. Date of Electronic Publication: 2026 Mar 09.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2666-2477
DOI:10.1016/j.xhgg.2026.100588