Nelmar Valentina Ortiz‐Cabrera

Hospital Infantil Universitario Niño Jesús

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 2 papers. Top paper: “Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy”.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Nature Genetics(2025)10.1038/s41588-025-02159-5

N/A

0DataRank · unranked

44 citations

Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales +47 more

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

European Journal of Human Genetics(2025)10.1038/s41431-025-01843-8

N/A

0DataRank · unranked

5 citations

Linda M. Reis, Alejandra Damián, Tanya Bardakjian, Adele Schneider, M J Trujillo-Tiebas +18 more