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Search results (15)

« Back to Publications

Author Correction: 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

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

De Jonghe J. et al, (2026), Nature

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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

De Jonghe J. et al, (2025)

Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores

Martin-Geary A. et al, (2025)

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)

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