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

Fiona Blanco‐Kelly

Instituto de Salud Carlos III

ORCID: 0000-0003-0052-5651

Also affiliated with Centre for Biomedical Network Research on Rare Diseases, Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Autónoma de Madrid

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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: “MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature”.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.001
N/A
0.406DataRank · unranked
14 citations

Maria Carla Borroto, Sadegheh Haghshenas, A Namasivayam, Jack Reilly, Michael A. Levy +61 more

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Nature Genetics(2026)10.1038/s41588-025-02451-4
N/A
0.370DataRank · unranked
8 citations

Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +212 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

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

medRxiv(2025)10.1101/2025.01.06.24317169
N/A
0DataRank · unranked
15 citations

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +95 more