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

Machteld M. Oud

Radboud University Nijmegen

ORCID: 0000-0003-4864-9346

Also affiliated with Radboud University Medical Center, Netherlands Metabolomics Centre

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: “Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis”.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001
N/A
0DataRank · unranked
13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101915
N/A
0DataRank · unranked
1 citations

Julian C. Lui, Dana Marafi, Zhi‐Jie Xia, Ruchika Bhatia, Elaine Zhou +21 more

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101513
N/A
0DataRank · unranked
1 citations

Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. van Rossum +39 more

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants

medRxiv(2025)10.1101/2025.06.25.25330124
N/A
0DataRank · unranked
1 citations

Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill A. Rosenfeld, Tiphanie P. Vogel +17 more