Morgane Plutino

<i> <scp>CHCHD</scp> 10 </i> mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Emmanuelle C. Genin, Morgane Plutino, Sylvie Bannwarth et al. · EMBO Molecular Medicine · 2015 · 199 citations · Full text

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 79 citations · Full text

Mutation update and uncommon phenotypes in a French cohort of 96 patients with <i><scp>WFS1</scp></i>‐related disorders

Annabelle Chaussenot, Cécile Rouzier, M.P. Quéré et al. · Clinical Genetics · 2014 · 43 citations

Genetics, Uncommon Phenotypes, Genetic Epidemiology +18

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

Marguerite Hureaux, Sarah Guterman, Bérénice Herve et al. · Prenatal Diagnosis · 2019 · 42 citations

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier et al. · BMC Medical Genetics · 2018 · 25 citations · Full text