Dr Thibaut Benquey

Dr Thibaut Benquey is a medical biologist specialising in constitutional genomics (WES/WGS), from rare disease diagnosis to the clinical applications of high-throughput sequencing. CEO of Geno'X, he founded and writes Geno'X Veille, a weekly bibliographic watch in clinical genomics: every article is personally selected, read, scored and reviewed from verified primary sources (PubMed, DOI). His work and interests span constitutional genetics, clinical pharmacogenomics, hereditary cancer genetics and bioinformatics applied to diagnosis.

• Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency
  J Hum Genet 2025 · co-author · PMID 40883650
• Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome
  Open Biology 2024 · co-author · PMID 39626775
• A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing
  Genes (Basel) 2022 · first author · PMID 35205364
• A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP
  J Neuromuscul Dis 2020 · first author · PMID 32538861

To cite an analysis published on Geno'X Veille:

Benquey T. Geno'X Veille. [Analysis title]. https://www.genox-veille.fr (accessed [date]).