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

Kristen Truxal

Nationwide Children's Hospital

ORCID: 0000-0002-8787-9411
MedicineBiochemistry, 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 3 papers. Top paper: “Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants”.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0
N/A
0DataRank · unranked
15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models

Communications Medicine(2025)10.1038/s43856-025-01017-z
N/A
0DataRank · unranked
1 citations

Tatjana Dorn, Barbara Gnutti, Yair Anikster, Sarah Kuebler, Rebecca C. Ahrens‐Nicklas +24 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579
N/A
0DataRank · unranked
0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more