Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES
Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van de Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D’haene, Annelies Dheedene, Martine Cools, Shoko Komatsuzaki, Ewelina Preizner-Rzucidło, Alison Ross, Christine Armstrong, Wendy Watkins, , Elfride B. W. De Baere
The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.
Human Mutation · Jan 1, 2026Peer-reviewedGenetic & Genomic Medicine