R. Frank Kooy

ORCID: 0000-0003-2024-0485

Also affiliated with Biomedical Informatics Research Center Antwerp

Biochemistry, Genetics and Molecular Biology

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

2.3Author 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 →

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

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Papers

Driven by 19 papers — median percentile 66. Top paper: “Lessons learned from 40 novel PIGA patients and a review of the literature”.

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

1.4DataRank · unranked

60 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications(2020)10.1038/s41467-020-18723-y

N/A

0.808DataRank · unranked

218 citations

Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe +95 more

The complexity of the GABAA receptor shapes unique pharmacological profiles

Drug Discovery Today(2009)10.1016/j.drudis.2009.06.009

N/A

0.776DataRank · unranked

176 citations

John R. Atack, R. Frank Kooy, Charlotte D’Hulst

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0.717DataRank · unranked

118 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Nature Genetics(2023)10.1038/s41588-023-01469-w

N/A

0.655DataRank · unranked

78 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +28 more

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells(2023)10.3390/cells12182330

N/A

0.637DataRank · unranked

69 citations

Dragana Protić, Emily G. Allen, Alison D. Archibald, Anna Baud, Ted W. Brown +41 more

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A

NAR Molecular Medicine(2024)10.1093/narmme/ugae019

N/A

0.499DataRank · unranked

15 citations

Monika H.M. Schmidt, Natalie Shum, Tanya Prasolava, Bryanna Meikle, Stella Lanni +30 more

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

medRxiv(2022)10.1101/2022.10.24.22281480

N/A

0.292DataRank · unranked

6 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +26 more

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

medRxiv(2024)10.1101/2024.08.27.24312158

N/A

0.269DataRank · unranked

5 citations

Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew T. Oetjens +65 more

Stress and telomere length in leukocytes: Investigating the role of GABRA6 gene polymorphism and cortisol

Psychoneuroendocrinology(2025)10.1016/j.psyneuen.2025.107358

N/A

0.165DataRank · unranked

2 citations

Mario Perez‐Alarcón, Luna Deconinck, Rudi De Raedt, Marie–Anne Vanderhasselt, Małgorzata W. Kożusznik +7 more

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.019

N/A

0DataRank · unranked

68 citations

Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain +8 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.015

N/A

0DataRank · unranked

40 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 more

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

medRxiv(2023)10.1101/2023.05.18.23290169

N/A

0DataRank · unranked

5 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 more

Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on FMR1 Premutation

Preprints.org(2023)10.20944/preprints202307.0605.v1

N/A

0DataRank · unranked

1 citations

Dragana Protić, Emily G. Allen, Alison D. Archibald, Anna Baud, W. Ted Brown +41 more

Synthesis and in vitro antitrypanosomatid efficacy of 5-benzylidene-2-thiohydantoin esters

Medicinal Chemistry Research(2025)10.1007/s00044-025-03463-9

N/A

0DataRank · unranked

0 citations

Janine Aucamp, Helena D. Janse van Rensburg, Keisuke Suganuma, David D. N’Da, R. Frank Kooy

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.25.007864

N/A

0DataRank · unranked

0 citations

Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain +8 more

R. Frank Kooy

Indexed papers

Top data-sharing exemplar

Papers