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

Helen V. Firth

Cambridge University Hospitals NHS Foundation Trust

ORCID: 0000-0002-6410-0882

Also affiliated with Wellcome Sanger Institute, Addenbrooke's Hospital

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 1%percentile
5.3Author DataRank

Indexed papers

4in 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 4 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 Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005
Top 6%
3.9DataRank
Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Papers

Driven by 19 papers — median percentile 62. Top paper: “GA4GH: International policies and standards for data sharing across genomic research and healthcare”.

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Cell Genomics(2021)10.1016/j.xgen.2021.100029
N/A
6.0DataRank · unranked
306 citations

Angela Page, Lindsay Smith, Jeremy Adams, Gil Alterovitz, Lawrence Babb +95 more

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005
Top 6%
3.9DataRank
Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

A cellular census of human lungs identifies novel cell states in health and in asthma

Nature Medicine(2019)10.1038/s41591-019-0468-5
N/A
1.0DataRank · unranked
956 citations

Gozde Kar, Marijn Berg, Orestes A. Carpaij, Krzysztof Polanski, Lukas M. Simon +31 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

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2024

Nucleic Acids Research(2024)10.1093/nar/gkae1089
Top 42%
0.447DataRank
Top 42%14 citations

Cath Brooksbank, ROBERT FINN, Helen V. Firth, Julia Foreman, Mallory Freeberg +21 more

A cellular census of healthy lung and asthmatic airway wall identifies novel cell states in health and disease

(2019)10.1101/527408
N/A
0.366DataRank · unranked
7 citations

G. Kar, Krzysztof Polanski, T. Gomes, Corry-Anke Brandsma, Irene H. Heijink +32 more

Mapping MAVE data for use in human genomics applications

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.20.545702
Top 51%
0.343DataRank
Top 51%6 citations

Estelle Y. Da, James Stevenson, Kori Kuzma, Anika Paul, Tierra R. Farris +14 more

Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect

arXiv (Cornell University)(2023)10.48550/arxiv.2306.15113
N/A
0DataRank · unranked
2 citations

Victoria N. Parikh, Alex H. Wagner, Jeremy A. Arbesfeld, Carol J. Bult, Helen V. Firth +9 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269
N/A
0DataRank · unranked
1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Loss of transient receptor potential channel 5 causes obesity and postpartum depression

Cell(2024)10.1016/j.cell.2024.06.001
N/A
0DataRank · unranked
39 citations

Tessa Cacciottolo, Na Yin, Yang He, Hesong Liu, Hailan Liu +30 more

Minimum information and guidelines for reporting a multiplexed assay of variant effect

Genome biology(2024)10.1186/s13059-024-03223-9
N/A
0DataRank · unranked
16 citations

Victoria N. Parikh, Alex H. Wagner, Jeremy A. Arbesfeld, Carol J. Bult, Helen V. Firth +9 more

PSMC5 insufficiency and P320R mutation impair proteasome function

Human Molecular Genetics(2024)10.1093/hmg/ddae085
N/A
0DataRank · unranked
4 citations

Jenny Carmichael, G. Collins, Daniela D’Agostino, Mathieu Lessard, Helen V. Firth +8 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273
N/A
0DataRank · unranked
3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481
N/A
0DataRank · unranked
3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z
N/A
0DataRank · unranked
108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100102
N/A
0DataRank · unranked
26 citations

Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat +34 more

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Nature Communications(2023)10.1038/s41467-023-43041-4
N/A
0DataRank · unranked
58 citations

Hong-Kee Tan, Malin H. L. Andersson, James Stephenson, Eugene J. Gardner, Holly Ironfield +14 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
0DataRank · unranked
17 citations

Marina T. DiStefano, Erin Rooney Riggs, Katherine Josephs, Fowzan S. Alkuraya, Joanna Amberger +21 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
0DataRank · unranked
7 citations

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