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

Ernest Turro

University of Cambridge

ORCID: 0000-0002-1820-6563

Also affiliated with Cambridge School, Bridge University, Child Health and Development Institute, Icahn School of Medicine at Mount Sinai

MedicineBiochemistry, Genetics and Molecular BiologyImmunology and Microbiology

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 3%percentile
1.8Author 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 →

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 15 papers — median percentile 88. 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

Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas

Haematologica(2020)10.3324/haematol.2019.238147
N/A
0DataRank · unranked
22 citations

Osagie Izuogu, Natasha Andressa Nogueira Jorge, Denis Seyres, Mariona Bustamante, Frances Burden +22 more

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

Haematologica(2020)10.3324/haematol.2019.235895
N/A
0DataRank · unranked
10 citations

Melissa A. Hayman, Suthesh Sivapalaratnam, Marilena Crescente, Harriet E. Allan, Matthew L. Edin +20 more

Referee report. For: Fast effect size shrinkage software for beta-binomial models of allelic imbalance [version 1; peer review: 3 approved with reservations]

Faculty of 1000 Research Ltd(2020)10.5256/f1000research.23018.r57280
N/A
0DataRank · unranked
0 citations

Ernest Turro

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

Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH

Journal of Thrombosis and Haemostasis(2024)10.1016/j.jtha.2024.06.017
N/A
0DataRank · unranked
15 citations

Jesse W. Rowley, Chris Stubben, Neal D. Tolley, Kathleen Freson, Benjamin Nelson +19 more

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

American Journal of Kidney Diseases(2024)10.1053/j.ajkd.2023.12.011
N/A
0DataRank · unranked
12 citations

Kayleigh D. Rutherford, Anisha J. Cooke, Malorie Meshkati, Vanessa Eddy-Abrams, Daniel Greene +20 more

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101097
N/A
0DataRank · unranked
10 citations

Young Nyun Park, Guy M. Lenk, Mariasavina Severino, Marcello Scala, Jonas Denecke +17 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

Transcriptome profiling of megakaryocytes and platelets: Application to GP9 ‐ and IKZF5 ‐related thrombocytopenia

HemaSphere(2025)10.1002/hem3.70217
N/A
0DataRank · unranked
3 citations

Fabienne Ver Donck, Kato Ramaekers, Chantal Thys, Koji Eto, Veerle Labarque +3 more

Production of platelets in vitro in functionalised 3-dimensional scaffolds mimicking the bone marrow niche

Haematologica(2025)10.3324/haematol.2024.286758
N/A
0DataRank · unranked
2 citations

Maria Colzani, Guénaëlle Bouet, Daniel J. Howard, Christian A. Di Buduo, Nicole Müller +19 more

A coagulation defect arising from heterozygous premature termination of tissue factor

Journal of Clinical Investigation(2020)10.1172/jci133780
N/A
0DataRank · unranked
23 citations

Emale El-Darzi, Mary H.C. Florido, Max Friesen, Glenn Merrill‐Skoloff, Marisa A Brake +11 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