C. Beugnet

发表

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

F. Leturcq, J. Nectoux, V. Tsatsaris, 2016, Prenatal diagnosis.

VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.

N. Rioux-Leclercq, P. Derreumaux, M. Delpech, 2017, Blood.

Revised spectrum of mutations in sarcoglycanopathies

F. Leturcq, J. Kaplan, J. Chelly, 2008, European Journal of Human Genetics.

When a mid-intronic variation of DMD gene creates an ESE site

F. Leturcq, J. Chelly, N. Deburgrave, 2014, Neuromuscular Disorders.

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

M. Cossée, F. Leturcq, J. Chelly, 2008, Human mutation.

Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

C. Lacroix, L. Mouthon, A. Brézin, 2017, Journal of Medical Case Reports.

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

N. Rioux-Leclercq, D. Samuel, F. Paraf, 2020, Kidney international.

Molecular basis for a novel systemic form of human hereditary apoA-I amyloidosis with vision loss

J. Straub, N. Rioux-Leclercq, F. Paraf, 2018, bioRxiv.

Foveal hypoplasia grading in 95 cases of congenital aniridia: correlation to phenotype and PAX6 genotype.

S. Valleix, D. Bremond-Gignac, A. Daruich, 2021, American journal of ophthalmology.

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

M. Cossée, F. Leturcq, J. Chelly, 2008, Human mutation.