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

Andrew Mumford

North Bristol NHS Trust

ORCID: 0000-0002-5523-511X

Also affiliated with University of Bristol

Medicine

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 2%percentile
2.0Author DataRank

Indexed papers

2in 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 2 indexed papers 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 →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Medicine(2023)10.1038/s41591-023-02211-z
Top 12%
1.8DataRank
Top 12%81 citations

Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese +28 more

Papers

Driven by 12 papers — median percentile 65. Top paper: “Genetic association analysis of 77,539 genomes reveals rare disease etiologies”.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Medicine(2023)10.1038/s41591-023-02211-z
Top 12%
1.8DataRank
Top 12%81 citations

Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese +28 more

The EHA Research Roadmap: Platelet Disorders

HemaSphere(2021)10.1097/hs9.0000000000000601
Top 59%
0.260DataRank
Top 59%3 citations

Kathleen Freson, Andreas Greinacher, Paolo Gresele, Thomas Kühne, Marie Scully +18 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
0DataRank · unranked
3 citations

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

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

Causal relationships between risk of venous thromboembolism and 18 cancers: a bidirectional Mendelian randomisation analysis

medRxiv(2023)10.1101/2023.05.16.23289792
N/A
0DataRank · unranked
1 citations

Philip C Haycock, Hermann Brenner, Jane C. Figueiredo, Tessel E. Galesloot, Robert C. Grant +14 more

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

Nature Medicine(2024)10.1038/s41591-024-03085-5
N/A
0DataRank · unranked
91 citations

Chantal Thys, Ian Berry, Joanna Jarvis, Els Ortibus, Andrew Mumford +3 more

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x
N/A
0DataRank · unranked
9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

medRxiv(2024)10.1101/2024.09.03.24312863
N/A
0DataRank · unranked
7 citations

Koenraad De Wispelaere, Jonathan Lees, Andrea Katrinecz, Sónia Pascoal, Emma Hales +17 more

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Nature Genetics(2025)10.1038/s41588-025-02159-5
N/A
0DataRank · unranked
44 citations

Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales +47 more

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w
N/A
0DataRank · unranked
18 citations

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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179
N/A
0DataRank · unranked
10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 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