Concepedia

Shobhana Bommireddipalli

SB

5

Publications

236

Citations

5

H-Index

2021

Active since

Affiliations

Children's Hospital at Westmead(Current)

Children's Medical Research Institute

The University of Sydney

The University of Melbourne

Murdoch Children's Research Institute

Shobhana Bommireddipalli is an author at Children's Hospital at Westmead specializing in rna splicing, genomics, and bioinformatics.

Top concepts

Publications per year

2021–2024

5

Publications

5

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

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

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

Ruebena Dawes, Adam Bournazos, Samantha J. Bryen et al. · Nature Genetics · 2023 · 84 citations · Full text

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

Ana Töpf, Dan Cox, Irina Zaharieva et al. · Nature Genetics · 2024 · 26 citations · Full text

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

Aamira Huq, Bryony A. Thompson, Mark F. Bennett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2022 · 16 citations

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

Nicole J. Van Bergen, Karen Gunanayagam, Adam Bournazos et al. · International Journal of Molecular Sciences · 2023 · 11 citations · Full text

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