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

Ruebena Dawes

Centre for Human Genetics

ORCID: 0000-0003-2135-0117

Also affiliated with Open Data Institute, University of Oxford

Biochemistry, Genetics and Molecular Biology

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 7 papers. Top paper: “De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders”.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438
N/A
0.360DataRank · unranked
10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

medRxiv(2023)10.1101/2023.09.12.23295416
N/A
0.292DataRank · unranked
6 citations

Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Susan Walker +17 more

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100125
N/A
0DataRank · unranked
11 citations

Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu +8 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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442
N/A
0DataRank · unranked
13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 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

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