Valentine Marquet

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Quentin Testard, Xavier Vanhoye, Kévin Yauy et al. · Journal of Medical Genetics · 2022 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

Radhia M’kacher, Bruno Colicchio, Claire Borie et al. · Genes · 2020 · 27 citations · Full text

Life Sciences, Genetics, Oncology +17

Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility

Radhia M’kacher, Bruno Colicchio, Valentine Marquet et al. · Fertility and Sterility · 2020 · 24 citations · Full text

Medicine, Genetics, Molecular Medicine +16