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

Sophie Nambot

Université de Bourgogne

ORCID: 0000-0002-9630-5049

Also affiliated with Centre Georges François Leclerc, CHU Dijon Bourgogne, Maison des Sciences sociales et des Humanités de Dijon

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 6 papers. Top paper: “De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature”.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6
N/A
0DataRank · unranked
38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more

Variants of human CLDN9 cause mild to profound hearing loss

Human Mutation(2021)10.1002/humu.24260
N/A
0DataRank · unranked
6 citations

Christophe Philippe, Inna A. Belyantseva, Yoko Nakano, Cristina Fenollar‐Ferrer, Risa Tona +19 more

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

Genetics in Medicine(2022)10.1016/j.gim.2022.08.025
N/A
0DataRank · unranked
8 citations

Wanxue Xu, Abigail A Smith, Xinyu Miao, Agathe Lafont, Omar Shennib +23 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1
N/A
0DataRank · unranked
4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5
N/A
0DataRank · unranked
4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010
N/A
0DataRank · unranked
1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more