Concepedia

Himanshu Joshi

HJ

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Publications

11

Citations

1.5K

H-Index

11

Active since

2016

Affiliations

The University of Sydney(Current)

Children's Hospital at Westmead

Broad Institute

Massachusetts General Hospital

Children's Medical Research Institute

Himanshu Joshi is an author at The University of Sydney specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2016–2023

11

Publications

11

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 152 citations · Full text

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · 2016 · 150 citations · Full text

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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

, , +11

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

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