Thierry Frébourg

Also affiliated with Normandie Université, Université de Rouen Normandie

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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 6 papers. Top paper: “The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements”.

The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

Journal of Medical Genetics(2010)10.1136/jmg.2009.074047

N/A

2.5DataRank · unranked

45 citations

Sophie Krieger, Jean-Christophe Théry, Audrey Killian, Antoine Rousselin, Pascaline Berthet +5 more

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Genetics in Medicine(2022)10.1016/j.gim.2022.05.007

N/A

0.846DataRank · unranked

281 citations

Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley +79 more

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

The Lancet Oncology(2021)10.1016/s1470-2045(21)00189-3

N/A

0.723DataRank · unranked

123 citations

James G. Dowty, Jeanette C. Reece, Grant Lee, Allyson Templeton, John‐Paul Plazzer +95 more

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Cancer Research(2020)10.1158/0008-5472.can-20-0895

N/A

0.515DataRank · unranked

30 citations

Sandrine M. Caputo, Teresa Sullivan, Julie Rondeaux, Sophie Krieger, Virginie Caux‐Moncoutier +33 more

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Acta Neuropathologica Communications(2021)10.1186/s40478-021-01294-4

N/A

0DataRank · unranked

40 citations

Sébastien Feuillette, Laëtitia Miguel, Catherine Schramm, Ségolène Pernet, Olivier Quenez +9 more

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome

EBioMedicine(2025)10.1016/j.ebiom.2025.106065

N/A

0DataRank · unranked

2 citations

Olivier Manches, Jonathan Gaucher, Claire Freyçon, D B Collantes Hoyos, Sandrine Blanchet +14 more