Clémence Vanlerberghe

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 120 citations

Cardiovascular Disease, Behaviour Issues, Pediatric Heart Disease +9

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain et al. · Genetics in Medicine · 2017 · 68 citations · Full text

Blepharocheilodontic Syndrome, Pathology, Molecular Medicine +2

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid et al. · European Journal of Human Genetics · 2018 · 60 citations · Full text

Translational Medicine, Pathology, Tbx5 Variants +5

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Kate Wolfe, Andrew McQuillin, Viola Alesi et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2018 · 31 citations · Full text

Genetics, Disease Gene Identification, Genomics +20

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text