Simon J. McGowan

ORCID: 0000-0001-9720-1914

Also affiliated with University of Oxford, MRC Weatherall Institute of Molecular Medicine, MRC Human Immunology Unit

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 4 papers. Top paper: “SMAD6 variants in craniosynostosis: genotype and phenotype evaluation”.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Genetics in Medicine(2020)10.1038/s41436-020-0817-2

N/A

0.593DataRank · unranked

51 citations

Araceli Cuellar, Krithi Bala, Sigrid M. A. Swagemakers, Nils Koelling, Simon J. McGowan +19 more

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Journal of Medical Genetics(2024)10.1136/jmg-2023-109531

N/A

0.385DataRank · unranked

12 citations

David A. Cruz Walma, Daniel M. Pinkas, Rebecca S Tooze, Joshua C. Bufton, William Richardson +13 more

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103427

N/A

0.104DataRank · unranked

1 citations

Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao +25 more

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107459

N/A

0DataRank · unranked

10 citations

Maud Wurmser, Simon J. McGowan, Rodrigo Atique, Débora Romeo Bertola, Michael L. Cunningham +11 more