Caroline Beugnet

Revised spectrum of mutations in sarcoglycanopathies

Madiha Trabelsi, Niloufar Kavian, Fatma Daoud et al. · European Journal of Human Genetics · 2008 · 85 citations

Life Sciences, Genetics, Molecular Genetics +9

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia

Lucie Orhant, Olivia Anselem, Mélanie Fradin et al. · Prenatal Diagnosis · 2016 · 61 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

Yoann Saillour, Mireille Cossée, France Leturcq et al. · Human Mutation · 2008 · 49 citations

Life Sciences, Genetics, Molecular Genetics +17

New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis

Magali Colombat, Jean‐Claude Aldigier, Pierre-Raphaël Rothschild et al. · Kidney International · 2020 · 23 citations · Full text

Medicine, Genetics, Pathology +16

Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype

Alejandra Daruich, Matthieu P. Robert, Camille Leroy et al. · American Journal of Ophthalmology · 2021 · 22 citations · Full text

Medicine, Ophthalmology, Vision Science +16