Elsa Leitão

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

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.

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

The paper investigates DNA methylation patterns in sperm from infertile men and finds that somatic DNA contamination and genetic variation, rather than recurrent epimutations, explain observed methylation abnormalities.

wg-blimp is an end-to-end pipeline for whole genome bisulfite sequencing data analysis that improves upon existing tools by offering a comprehensive workflow and interactive interface, validated on public datasets.