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

Brigitte Gilbert‐Dussardier

Centre Hospitalier Universitaire de Poitiers

ORCID: 0000-0001-7182-9914
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 8 papers. Top paper: “Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder”.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011
N/A
0.483DataRank · unranked
24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009
N/A
0.416DataRank · unranked
15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

medRxiv(2021)10.1101/2021.07.07.21259278
N/A
0DataRank · unranked
2 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Matthew J. Dysart, Hannah T. M. Contreras +33 more

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human Molecular Genetics(2022)10.1093/hmg/ddac114
N/A
0DataRank · unranked
17 citations

Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne‐Sophie Denommé‐Pichon, Boris Keren +43 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012
N/A
0DataRank · unranked
38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Cell(2020)10.1016/j.cell.2020.02.031
N/A
0DataRank · unranked
194 citations

Yiwen Zhu, Guy Kelman, Catherine S. Novak, Ingrid Plajzer-Frick, Momoe Kato +22 more

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.002
N/A
0DataRank · unranked
8 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart +34 more

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.002
N/A
0DataRank · unranked
42 citations

Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan +53 more