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

Patrícia Dias

Charles University

ORCID: 0000-0002-1158-5417

Also affiliated with The Ohio State University Wexner Medical Center, Administração Regional de Saúde de Lisboa e Vale do Tejo, Hospital de Santa Maria, Instituto Superior de Contabilidade e Administração de Coimbra, The Ohio State University

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 3 papers. Top paper: “A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome”.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations

Stem Cell Research(2022)10.1016/j.scr.2022.102905

N/A

0DataRank · unranked

3 citations

Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patrícia Dias +8 more

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more