Shobhana Bommireddipalli

Clinical impact of whole-genome sequencing in patients with early-onset dementia

C. Masters, E. Storey, D. Darby, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

SpliceVault predicts the precise nature of variant-associated mis-splicing

A. Bournazos, R. Dawes, Shobhana Bommireddipalli, 2023, Nature Genetics.

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

M. Warmoes, Carole L. Linster, P. Naidoo, 2023, International journal of molecular sciences.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

L. Waddell, G. O'grady, F. Evesson, 2023, Clinical genetics.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.