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A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Isabelle Tournier , Myriam Vezain , Alexandra Martins , Francoise Charbonnier , Stéphanie Baert-Desurmont et al.
Human Mutation, 2008, 29 (12), pp.1412-1424. ⟨10.1002/humu.20796⟩
Journal articles hal-02336389v1

Building and analysing an integrative model of HIV-1 RNA alternative splicing

Alexander Bockmayr , Arnaud Courtois , Damien Eveillard , Myriam Vezain
International Conference on Computational Methods in Systems Biology - CMSB 2004, May 2004, Paris/France, pp.43--57, ⟨10.1007/b107287⟩
Conference papers inria-00000917v1

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⟩
Journal articles hal-02356324v1

Modélisation de la régulation de l'épissage alternatif au site A7 de HIV-1

Myriam Vezain
[Stage] A03-R-394 || vezain03a, 2003
Reports inria-00099672v1

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Hélène Tubeuf , Sandrine M. Caputo , Teresa Sullivan , Julie Rondeaux , Sophie Krieger et al.
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
Journal articles hal-03597164v1

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⟩
Journal articles hal-02355649v1
Image document

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⟩
Journal articles hal-02375836v1

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Daphne Lehalle , Umut Altunoglu , Ange-Line Bruel , Mirna Assoum , Yannis Duffourd et al.
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
Journal articles hal-02005698v1

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B

Pascale Saugier-Veber , Florent Marguet , Myriam Vezain , Martine Bucourt , Pascaline Létard et al.
European Journal of Medical Genetics, 2019, pp.103814. ⟨10.1016/j.ejmg.2019.103814⟩
Journal articles hal-02445306v1

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⟩
Journal articles hal-02883904v1
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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.
Preprints, Working Papers, ... hal-02317979v2

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Myriam Vezain , Pascale Saugier-Veber , Elisa Goina , Renaud Touraine , Vã©ronique Manel et al.
Human Mutation, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩
Journal articles istex hal-02336380v1

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⟩
Journal articles hal-02355680v1

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⟩
Journal articles hal-02356382v1

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Myriam Vezain , Christel Thauvin-Robinet , Yoann Vial , Sophie Coutant , Séverine Drunat et al.
Human Genetics, 2022, ⟨10.1007/s00439-017-1811-x⟩
Journal articles hal-03805825v1

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Myriam Vezain , Bénédicte Gérard , Séverine Drunat , Benoît Funalot , Séverine Fehrenbach et al.
Human Mutation, 2011, 32 (9), pp.989-994. ⟨10.1002/humu.21528⟩
Journal articles istex hal-02336367v1

Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

Daphne Lehalle , Umut Altunoglu , Ange‐line Bruel , Mirna Assoum , Yannis Duffourd et al.
EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩
Journal articles hal-02904510v1
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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 communications hal-02264817v1
Image document

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⟩
Journal articles hal-01903168v1

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⟩
Journal articles hal-02376161v1