Mathilde Lefebvre

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 265 citations

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 218 citations · Full text

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

Selective mitochondrial DNA degradation following double-strand breaks

Amandine Moretton, Frédéric Morel, Bertil Macao et al. · PLoS ONE · 2017 · 136 citations · Full text

Mitophagy, Genome Instability, Dna Damage +15

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 133 citations · Full text

First Days, Neurobiology Of Disease, Neurological Disorder +10