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

Romano Tenconi

ORCID: 0000-0002-6451-0590

Biochemistry, Genetics and Molecular BiologyMedicine

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: “SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females”.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.015

N/A

0DataRank · unranked

0 citations

María E. Rodríguez-Ruiz, Eric N. Anderson, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Agatha Schlüter +41 more