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

Clara van Karnebeek

Netherlands Institute for Neuroscience

ORCID: 0000-0003-3352-5631

Also affiliated with University of Amsterdam

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 5 papers. Top paper: “SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology”.

SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109073
N/A
0.165DataRank · unranked
2 citations

Annelieke R. Müller, Laura Benkemoun, Ibrahim Boussaad, Martina C. Cornel, Joanna IntHout +15 more

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Human Molecular Genetics(2022)10.1093/hmg/ddac173
N/A
0DataRank · unranked
13 citations

Matt C. Danzi, André B. P. Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender +13 more

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

Journal of Medical Genetics(2023)10.1136/jmg-2022-109127
N/A
0DataRank · unranked
12 citations

Maryam Vaseghi‐Shanjani, Jill A. Rosenfeld, Gui Xiang Yang, Henry Y. Lu, Mehul Sharma +23 more

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

Scientific Reports(2024)10.1038/s41598-024-64480-z
N/A
0DataRank · unranked
9 citations

Daman Kumari, Saikat Santra, Clara van Karnebeek, André B. P. Kuilenburg, Karen Usdin +1 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