Steeve Fourneaux

Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndrome

Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry et al. · Journal of Medical Genetics · 2017 · 118 citations

Life Sciences, Genetics, Oncology +17

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Kévin Cassinari, Sophie Coutant et al. · European Journal of Human Genetics · 2020 · 44 citations · Full text

Life Sciences, Bioinformatics, Computer Science +15

The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome

Mariette Renaux‐Petel, Richard Sesboüé, Stéphanie Baert‐Desurmont et al. · Familial Cancer · 2013 · 24 citations

Life Sciences, Genetics, Oncology +7

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Stéphanie Baert‐Desurmont, Sophie Coutant, Françoise Charbonnier et al. · European Journal of Human Genetics · 2018 · 19 citations

Medicine, Genetics, Molecular Genetics +16

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

François Lecoquierre, Olivier Quenez, Steeve Fourneaux et al. · Human Genetics · 2023 · 14 citations

Life Sciences, Genetics, Molecular Biology +17