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

Nicole Revençu

Cliniques Universitaires Saint-Luc

ORCID: 0000-0002-7120-4903

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 3 papers. Top paper: “Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability”.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

npj Genomic Medicine(2024)10.1038/s41525-024-00413-z

N/A

0DataRank · unranked

5 citations

Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx +41 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more