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

Claire L. Shovlin

Imperial College Healthcare NHS Trust

ORCID: 0000-0001-9007-5775

Also affiliated with Lung Institute, Imperial College London

MedicineBusiness, Management and Accounting

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

1in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 10 papers. Top paper: “Rare disease gene association discovery in the 100,000 GenomesProject”.

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w
N/A
0.515DataRank · unranked
18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294
N/A
0.208DataRank · unranked
3 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia

eJHaem(2023)10.1002/jha2.746
N/A
0.165DataRank · unranked
2 citations

Claire L. Shovlin, Ghazel Mukhtar

Functional filter for whole genome sequence data identifies stress impact, non-coding alternate polyadenylation site variants >5kb from coding DNA

medRxiv(2023)10.1101/2023.05.10.23289736
N/A
0DataRank · unranked
2 citations

Zhentian Kai, Dan Murphy, Dongyang Li, Dilip Patel, Adrianna Bielowka +9 more

Heterozygous transcriptional signatures unmask variable premature termination codon (PTC) burden alongside pathway-specific adaptations in blood outgrowth endothelial cells from patients with nonsense DNA variants causing hereditary hemorrhagic telangiectasia

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.05.471269
N/A
0DataRank · unranked
5 citations

Dilip Patel, Adrianna Bielowka, Patricia Cháves, Stefan J. Marciniak, Michela Noseda +3 more

When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.002
N/A
0DataRank · unranked
6 citations

Micheala A. Aldred, Claire L. Shovlin

Proteomic signatures of smoking and their associations with risk of incident diseases and mortality in diverse populations

Research Square(2025)10.21203/rs.3.rs-4998867/v1
N/A
0DataRank · unranked
0 citations

Bowen Liu, M. Austin Argentieri, Lazaros Belbasis, Claire L. Shovlin, Jennifer A. Collister +18 more

Endogenous plasma resuspension of peripheral blood mononuclear cells prevents preparative-associated stress that modifies polyA-enriched RNA responses to subsequent acute stressors

Cell Stress(2024)10.15698/cst2024.11.301
N/A
0DataRank · unranked
3 citations

Karina Al-Dahleh, Dan Murphy, Sv . Georgieva, Nik Matthews, Claire L. Shovlin +1 more

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project

Journal of Medical Genetics(2023)10.1136/jmg-2023-109195
N/A
0DataRank · unranked
13 citations

Fatma Almaghlouth, Ali Alsafi, Nicole Coote, Catherine Rennie, G M F Wallace +2 more

Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.005
N/A
0DataRank · unranked
12 citations

Zhentian Kai, Dan Murphy, Dongyang Li, Dilip Patel, Adrianna Bielowka +9 more