Nicola Whiffin

Also affiliated with Centre for Human Genetics, Open Data Institute, University of Oxford, Broad Center

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

7.3Author 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 →

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

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Papers

Driven by 25 papers — median percentile 83. Top paper: “Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect”.

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Nature Genetics(2021)10.1038/s41588-020-00762-2

N/A

7.0DataRank · unranked

297 citations

Catherine Francis, Xiao Yun Xu, Alexa M.C. Vermeer, Andrew R. Harper, Roy Huurman +65 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Nature Communications(2020)10.1038/s41467-019-12438-5

N/A

5.6DataRank · unranked

143 citations

James Zou, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier +174 more

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications(2020)10.1038/s41467-019-10717-9

N/A

5.2DataRank · unranked

191 citations

Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans +181 more

The effect of LRRK2 loss-of-function variants in humans

Nature Medicine(2020)10.1038/s41591-020-0893-5

N/A

4.9DataRank · unranked

114 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric V. Minikel, Julia K. Goodrich +214 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/561472

N/A

0.977DataRank · unranked

17 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric Vallabh Minikel, Konrad J. Karczewski +35 more

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Evaluating drug targets through human loss-of-function genetic variation

Nature(2020)10.1038/s41586-020-2267-z

N/A

0.779DataRank · unranked

179 citations

Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes +150 more

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

Cell Genomics(2024)10.1016/j.xgen.2024.100602

Top 31%

0.652DataRank

Top 31%12 citations

Samvida S. Venkatesh, Nikolas Baya, Barney Hill, Wei Zhou, Alex Bloemendal +6 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

Translon: a single term for translated regions

Nature Methods(2025)10.1038/s41592-025-02810-3

N/A

0.389DataRank · unranked

11 citations

Jack A. S. Tierney, M. Mar Albà, Dmitry E. Andreev, Julie L. Aspden, John F. Atkins +164 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 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

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

medRxiv(2023)10.1101/2023.09.12.23295416

N/A

0.292DataRank · unranked

6 citations

Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Susan Walker +17 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0.269DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

medRxiv(2023)10.1101/2023.06.29.23291992

N/A

0.208DataRank · unranked

3 citations

Samvida S. Venkatesh, Nikolas Baya, Wei Zhou, Alex Bloemendal, Benjamin M. Neale +5 more

Modulation of prion protein expression through cryptic splice site manipulation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.19.572439

N/A

0.104DataRank · unranked

1 citations

Taylor L Corridon, Meredith A Mortberg, Elston N. D’Souza, Nicola Whiffin, Eric Vallabh Minikel +2 more

Aberrant splicing prediction during human organ development

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.07.16.665183

N/A

0DataRank · unranked

0 citations

Александр Неверов, Alexandra C Martin-Geary, Shubhankar Londhe, Carina Schröder, Vicente A. Yépez +3 more

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

medRxiv(2021)10.1101/2021.03.19.21253973

N/A

0DataRank · unranked

5 citations

Algy Taylor, Gillian I. Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman +9 more

Ribosome Decision Graphs for the Representation of Eukaryotic RNA Translation Complexity

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.10.566564

N/A

0DataRank · unranked

4 citations

Michał I. Świrski, Håkon Tjeldnes, Jonathan M. Mudge, Joanna Kufel, Nicola Whiffin +3 more

Modulation of prion protein expression through cryptic splice site manipulation

Journal of Biological Chemistry(2024)10.1016/j.jbc.2024.107560

N/A

0DataRank · unranked

2 citations

Taylor L Corridon, Meredith A Mortberg, Elston N. D’Souza, Nicola Whiffin, Eric Vallabh Minikel +2 more

Ribosome decision graphs for the representation of eukaryotic RNA translation complexity

Genome Research(2024)10.1101/gr.278810.123

N/A

0DataRank · unranked

5 citations

Michał I. Świrski, Håkon Tjeldnes, Jonathan M. Mudge, Joanna Kufel, Nicola Whiffin +3 more

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.014

N/A

0DataRank · unranked

29 citations

Algy Taylor, Gillian I. Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman +8 more

Nicola Whiffin

Indexed papers

Top data-sharing exemplar

Papers