Bertrand Chesneau

First evidence of <scp> <i>SOX2</i> </scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau, Marion Aubert‐Mucca, Felix Frémont et al. · Clinical Genetics · 2022 · 25 citations · Full text

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland et al. · European Journal of Human Genetics · 2021 · 17 citations · Full text

Genetics, Genetic Epidemiology, Novo Events +16

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Clarisse Billon, Salma Adham, Natalia Hernandez Poblete et al. · Orphanet Journal of Rare Diseases · 2021 · 16 citations · Full text

A +3 variant at a donor splice site leads to a skipping of the <i>MYH11</i> exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland et al. · Molecular Genetics & Genomic Medicine · 2021 · 11 citations · Full text