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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 , Francoise Charbonnier , Pierre Macquère , François Lecoquierre , et al.
European Journal of Human Genetics, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩
Article dans une revue hal-02355649v1

Blood functional assay for rapid clinical interpretation of germline TP53 variants

 Sabine Raad , Marion Rolain , Sophie Coutant , Céline Derambure , Raphaël Lanos , et al.
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-107059. ⟨10.1136/jmedgenet-2020-107059⟩
Article dans une revue hal-03106841v1

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

 Abdelkader Heddar , Pierre Fermey , Sophie Coutant , Émilie Angot , Jean-Christophe Sabourin , et al.
Genes, Chromosomes & Cancer, 2017, 56 (2), pp.128-134. ⟨10.1002/gcc.22419⟩
Article dans une revue hal-02356324v1

A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis

 Dominique Penther , Pierre‐julien Viailly , Sylvain Latour , Pascaline Etancelin , Elodie Bohers , et al.
Genes, Chromosomes & Cancer, 2019, 58 (8), pp.595-601. ⟨10.1002/gcc.22743⟩
Article dans une revue hal-02329034v1

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation

 Bénédicte Sudrié-Arnaud , Florent Marguet , Sophie Patrier , Jelena Martinovic , Ferielle Louillet , et al.
Clinica Chimica Acta, 2018, 481, pp.1-8. ⟨10.1016/j.cca.2018.02.023⟩
Article dans une revue hal-02356382v1

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

 Mariette Renaux-Petel , Francoise Charbonnier , Jean-Christophe Thery , Pierre Fermey , Gwendoline Lienard , et al.
Journal of Medical Genetics, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩
Article dans une revue hal-02355680v1
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Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

 Isabelle Tournier , Régine Marlin , Kelly Walton , Francoise Charbonnier , Sophie Coutant , et al.
Human Mutation, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩
Article dans une revue hal-02375836v1

TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis

 Nadège Cordel , Céline Derambure , Sophie Coutant , Xavier Mariette , Denis Jullien , et al.
Rheumatology, 2021, 60 (12), pp.5863-5867. ⟨10.1093/rheumatology/keab260⟩
Article dans une revue hal-03667247v1
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EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

 Sophie Coutant , Chloé Cabot , Arnaud Lefebvre , Martine Léonard , Elise Prieur-Gaston , et al.
BMC Bioinformatics, 2012, 13 (Suppl 14), pp.S9
Article dans une revue inserm-00730215v1

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

 François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest , et al.
American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩
Article dans une revue hal-02356422v1

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

 François Lecoquierre , Anne‐claire Brehin , Sophie Coutant , Juliette Coursimault , Anne Bazin , et al.
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Article dans une revue hal-02538246v1
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Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

 Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al.
2019
Pré-publication, Document de travail hal-02317979v2

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

 Gaël Nicolas , David Wallon , Camille Charbonnier , Olivier Quenez , Stéphane Rousseau , et al.
European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩
Article dans une revue hal-01431285v1

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

 Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Article dans une revue hal-02883904v1

Bistable Cell Fate Specification as a Result of Stochastic Fluctuations and Collective Spatial Cell Behaviour

 Daniel Stockholm , Frédérique Edom-Vovard , Sophie Coutant , Peggy Sanatine , Yoshiaki Yamagata , et al.
PLoS ONE, 2010, 5 (12), pp.e14441. ⟨10.1371/journal.pone.0014441⟩
Article dans une revue hal-02178248v1

CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations

 Alexis Guernet , Sathish kumar Mungamuri , Dorthe Cartier , Ravi Sachidanandam , Anitha Jayaprakash , et al.
Molecular Cell, 2016, 63 (3), pp.526-538. ⟨10.1016/j.molcel.2016.06.017⟩
Article dans une revue hal-02376161v1
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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

 Myriam Vezain , Matthieu Lecuyer , Marina Rubio , Valérie Dupé , Leslie Ratié , et al.
Acta Neuropathologica Communications, 2018, 6 (1), pp.109. ⟨10.1186/s40478-018-0610-5⟩
Article dans une revue hal-01903168v1
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Next Generation Sequencing Analysis of HIV-1 Group O Reverse Transcriptase Residue 181C Prevalence and Evolution over Time, With or Without Antiretroviral Selection Pressure

 Marie Leoz , Myriam Vezain , Elodie Alessandri-Gradt , Sophie Coutant , Guillemette Unal , et al.
23rd HIV Dynamics and Evolution, Apr 2016, Woods Hole, United States
Poster de conférence hal-02264817v1
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New Insights into Plant Extracellular DNA. A Study in Soybean Root Extracellular Trap

 Marie Chambard , Carole Plasson , Céline Derambure , Sophie Coutant , Isabelle Tournier , et al.
Cells, 2021, 10 (1), pp.69. ⟨10.3390/cells10010069⟩
Article dans une revue hal-03101797v1
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