Jérémie Mortreux

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 97 citations · Full text

Novel <i>CAPN3</i> variant associated with an autosomal dominant calpainopathy

Mathieu Cérino, Emmanuelle Salort‐Campana, Alexandra Salvi et al. · Neuropathology and Applied Neurobiology · 2020 · 30 citations · Full text

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Jérémie Mortreux, Tiffany Busa, Dominique P. Germain et al. · European Journal of Human Genetics · 2017 · 27 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Jérémie Mortreux, Juliette Bacquet, Anthony Boyer et al. · Journal of Human Genetics · 2019 · 12 citations

Molecular Diagnostic Techniques, Charcot-marie-tooth Disease, Pathogenesis +5