Richard Alan Lewis

The paper reports new TUBB2B variants in multiple families, expanding the clinical and molecular spectrum of tubulinopathies and highlighting phenotypic heterogeneity and dual molecular diagnoses.

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

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.