- Santorini M, Chesneau B, Koskas-Boublil P, et al. First implication of MIP in bilateral microphthalmia with
persistent fetal vasculature. Am J Med Genet A, 2023.
- Chesneau B, Ivashchenko V, Habib C, et al. Evaluation of somatic and/or germline mosaicism in congenital
malformation of the eye. Eur J Hum Genet. 2022.
- Chesneau B, Aubert-Mucca M, Fremont F, et al. First evidence of SOX2 mutations in Peters’ anomaly: lessons
from molecular screening of 95 patients. Clinical Genetics, 2022.
- Billon C; Adham S; Hernandez Poblete N, et al. Cardiovascular and Connective Tissue Disorder features in
FLNArelated
PVNH patients: progress towards a refined delineation of this syndrome. Orphanet Journal of Rare
Diseases, 2021.
- Chesneau B, Plancke A, Rolland G, et al. A +3 variant at a donor splice site leads to a skipping of the MYH11 exon
32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus
Arteriosus. Mol Genet Genomic Med, 2021.
- Chesneau B, Plancke A, Rolland G et al. Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related
disorders. Eur J Hum Genet, 2021.
- Chesneau B, Edouard T, Dulac Y, et al. Clinical and genetic data of 22 new patients with SMAD3 pathogenic
variants and review of the literature. Mol Genet Genomic Med, 2020.
