Lucie Orhant

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau et al. · Neuro-Oncology · 2018 · 67 citations · Full text

Medicine, Genetics, Oncology +17

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia

Lucie Orhant, Olivia Anselem, Mélanie Fradin et al. · Prenatal Diagnosis · 2016 · 61 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of <i>NF1</i> and <i>CFTR</i> mutations using droplet digital PCR

Aurélia Gruber, Mathilde Pacault, Laïla El Khattabi et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2018 · 40 citations

Medicine, Genetics, Molecular Genetics +14

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Juliette Nectoux, Rafael de Cid, Sylvain Baulande et al. · European Journal of Human Genetics · 2014 · 28 citations

Life Sciences, Genetics, Molecular Genetics +15

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

Aurélie Vasson, Céline Leroux, Lucie Orhant et al. · European Journal of Human Genetics · 2013 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12