Thomy de Ravel

Also affiliated with Universitair Ziekenhuis Leuven, Centre For Human Genetics, Center for Human Genetics, Universitair Ziekenhuis Brussel, KU Leuven

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: “Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia”.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human Mutation(2022)10.1002/humu.24371

N/A

0DataRank · unranked

20 citations

Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso +46 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more