Dr Bertrand Chesneau MD

Visiting Researcher

Department of Biological and Medical Sciences

bchesneau@brookes.ac.uk

Role

I am a doctor in medical genetics at the Toulouse University Hospital in France and a visiting researcher in Professor Ragge's team. My research involves the use of whole genome/exome sequencing and copy number variant analysis to better understand the genes and mechanisms involved in eye development anomalies.

Research

My research is focused on the identification of new genes and molecular mechanisms underlying human
developmental eye disorders, through the analysis of sequencing data of patients with this condition.

Groups

Molecular Genetics of Human Eye Development

Publications

Other

Other publications

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 FLNA related 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.