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

S. E. A. Leigh

Genomics England

ORCID: 0000-0003-3368-7059
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 4%percentile
0.679Author DataRank

Indexed papers

3in 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 3 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.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

medRxiv(2022)10.1101/2022.01.03.21268593
Top 34%
0.575DataRank
Top 34%17 citations

Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin +41 more

Papers

Driven by 16 papers — median percentile 22. Top paper: “Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli”.

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

Nature(2020)10.1038/s41586-020-2080-8
N/A
8.3DataRank · unranked
1184 citations

Jens Puschhof, Axel Rosendahl Huber, Arne van Hoeck, Henry M. Wood, Jason Nomburg +95 more

Human and mouse essentiality screens as a resource for disease gene discovery

Nature Communications(2020)10.1038/s41467-020-14284-2
N/A
0.730DataRank · unranked
129 citations

Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter +95 more

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Brain(2023)10.1093/brain/awad240
N/A
0.646DataRank · unranked
73 citations

Stefania Magri, Riccardo Curró, Elena Abati, Stefano Facchini, Marinella Corbetta +95 more

The genomic landscape of familial glioma

Science Advances(2023)10.1126/sciadv.ade2675
N/A
0.596DataRank · unranked
52 citations

Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E. Plon, Terence C. Wong +85 more

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

medRxiv(2022)10.1101/2022.01.03.21268593
Top 34%
0.575DataRank
Top 34%17 citations

Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin +41 more

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013
N/A
0.542DataRank · unranked
36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5
N/A
0.477DataRank · unranked
23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

Genetics in Medicine(2023)10.1016/j.gim.2023.101029
N/A
0.434DataRank · unranked
17 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

Mendelian gene identification through mouse embryo viability screening

Genome Medicine(2022)10.1186/s13073-022-01118-7
N/A
0.424DataRank · unranked
15 citations

Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz‐Fuentes +95 more

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Genetics in Medicine(2022)10.1016/j.gim.2021.12.014
N/A
0.396DataRank · unranked
13 citations

Maria Toms, Rodrigo Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks +70 more

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

medRxiv(2023)10.1101/2023.03.30.23287948
N/A
0.312DataRank · unranked
7 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561
Top 78%
0.104DataRank
Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429
Top 100%
0DataRank
Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Genetics in Medicine(2021)10.1016/j.gim.2021.09.012
N/A
0DataRank · unranked
168 citations

Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann +23 more

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease

Journal of Nephrology(2025)10.1007/s40620-025-02211-x
N/A
0DataRank · unranked
0 citations

Kane E. Collins, Sophia Heneghan, Edmund Gilbert, Hana Yang, Sarah R. Senum +82 more

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

medRxiv(2021)10.1101/2021.03.17.21252755
N/A
0DataRank · unranked
3 citations

Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann +23 more