🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Himanshu Joshi

Children's Medical Research Institute

ORCID: 0000-0003-1510-8826

Also affiliated with Children's Hospital at Westmead

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. Top paper: “Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy”.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

European Journal of Human Genetics(2020)10.1038/s41431-020-00715-7
N/A
0DataRank · unranked
14 citations

Emily C. Oates, Frances J. Evesson, Jessica K. Lu, Leigh B. Waddell, Himanshu Joshi +7 more

Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.18.452855
N/A
0DataRank · unranked
4 citations

Himanshu Joshi, Sandra T. Cooper, Ruebena Dawes

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

Nature Communications(2022)10.1038/s41467-022-29271-y
N/A
0DataRank · unranked
33 citations

Himanshu Joshi, Sandra T. Cooper, Ruebena Dawes

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

European Journal of Human Genetics(2022)10.1038/s41431-022-01043-8
N/A
0DataRank · unranked
19 citations

Lisa Worgan, Jessika Iwanski, Christopher T. Pappas, Himanshu Joshi, Jared M. Churko +7 more

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

Nature Genetics(2023)10.1038/s41588-022-01293-8
N/A
0DataRank · unranked
94 citations

Adam Bournazos, Samantha J. Bryen, Shobhana Bommireddipalli, Rhett G. Marchant, Himanshu Joshi +2 more