Elston N. D’Souza

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.

Modulation of prion protein expression through cryptic splice site manipulation

This study identifies a cryptic exon in the human PRNP gene that can reduce prion protein expression when included in mRNA, offering a new therapeutic target for prion disease.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

The paper examines 5' untranslated regions (UTRs) to show their role in translational regulation of dosage-sensitive genes and introduces a web tool for analyzing 5UTR composition.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

This study identifies disease-causing promoter and untranslated region variants in 8,040 undiagnosed rare disease patients using a new framework and finds 12 variants with potential pathogenicity.

COVID-3D: An online resource to explore the structural distribution of genetic variation in SARS-CoV-2 and its implication on therapeutic development

The paper presents a web resource, COVID-3D, that visualizes SARS-CoV-2 genetic variation in 3D structures to aid in understanding its impact on infection, immunity, and drug development.