Donald Basel

Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

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

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Predicting Genetic Variant Pathogenicity Using Vector Embeddings

This paper introduces a semantic embedding framework to predict genetic variant pathogenicity using natural language descriptions and pre-trained models, achieving high accuracy across multiple genes.

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

A deep intronic variant activates a pseudoexon in the MTM1 gene in a family with X-linked myotubular myopathy

The paper identifies an intronic variant in MTM1 that activates a pseudoexon, leading to nonsense-mediated decay and causing X-linked myotubular myopathy in affected males.