Search results (15)
« Back to PublicationsSaturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
De Jonghe J. et al, (2026), Nature, 654, 429 - 436
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Rius R. et al, (2026), Nature genetics, 58, 761 - 773
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y. et al, (2024), Nature, 632, 832 - 840
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Chen Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 854 - 854
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC. et al, (2023), medRxiv
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R. et al, (2023), Nature genetics, 55, 324 - 332
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.
Bryen SJ. et al, (2022), HGG advances, 3
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data.
Dawes R. et al, (2022), Nature communications, 13
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics, 24, 130 - 145
Pro-inflammatory dopamine-2 receptor-specific T cells in paediatric movement and psychiatric disorders.
Pilli D. et al, (2020), Clinical & translational immunology, 9
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
Dawes R. et al, (2019), NPJ genomic medicine, 4