M. Osundiji

Downbeat nystagmus without ataxia as an early manifestation of spinocerebellar ataxia, autosomal recessive type 10 (SCAR10): a case report

Population Reference Data in the Molecular Diagnosis of Pathogenic CAPN3 Variants: Contextual Evidence and Interpretive Limits.

Colon cancer in a patient with a mosaic monoallelic germline pathogenic NF1 gene variant

This case highlights the co-occurrence of an NF1 variant and dMMR colorectal cancer and underscores the need for further studies to determine whether this represents a coincidental finding or a biologically meaningful association.

The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome

Distinct genotype–phenotype associations exist among LDS subtypes, and TGFBR1 and TGFBR2 variants are associated with a greater burden of aggressive vascular disease, whereas SMAD3 variants are linked to mitral valve disease, peripheral neuropathy, and osteoarthritis.