Audrey Coustier

One NF1 Mutation may Conceal Another

E. Pasmant, M. Vidaud, I. Laurendeau, 2019, Genes.

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study

R. Porcher, Audrey Coustier, A. Luscan, 2016, PloS one.

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

E. Pasmant, M. Vidaud, I. Laurendeau, 2022, Human Genetics.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions.

M. Blok, E. Pasmant, I. Laurendeau, 2023, The Journal of molecular diagnostics : JMD.