Céline Poirsier

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard et al. · European Journal of Human Genetics · 2015 · 52 citations · Full text

Epidemiology, Clinical Population, Diagnosis +3

Report on 3 patients with 12p duplication including GRIN2B

Céline Poirsier, Emilie Landais, Nathalie Bednarek et al. · European Journal of Medical Genetics · 2014 · 41 citations

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier et al. · American Journal of Medical Genetics Part A · 2022 · 32 citations · Full text

Genetics, Genetic Epidemiology, New Cohort +19

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of <scp><i>PDCL3</i></scp> as a novel candidate gene

Clarisse Billon, Arnaud Molin, Céline Poirsier et al. · Clinical Genetics · 2020 · 24 citations