Rosanna Weksberg

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

Truncating ASXL1 mutations in Bohring-Opitz Syndrome dysregulate canonical and non-canonical Wnt Signaling

The paper identifies how ASXL1 mutations disrupt the epigenome and activate Wnt signaling pathways in Bohring-Opitz syndrome and myeloid leukemias.

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

Human - murine concordance of molecular signatures in nerve-sparing murine partial bladder outlet obstruction (NeMO)

This study compares gene expression changes in a nerve-sparing mouse bladder obstruction model (NeMO) with human data, identifying shared cytokine pathways and therapeutic implications.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

Screening for genes that accelerate the epigenetic ageing clock in humans reveals a role for the H3K36 methyltransferase NSD1

The paper screens for genes affecting epigenetic age acceleration in humans and identifies NSD1 as a key regulator of the epigenetic ageing clock.

An Unsupervised Learning Method for Disease Classification Based on DNA Methylation Signatures

This paper introduces an unsupervised learning method to classify diseases using DNA methylation signatures, achieving high accuracy on known disorders and identifying a new subtype in autism.