Myriam Vézain
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View article: Sustained Efficacy of Artemether-Lumefantrine in Laos Despite Genomic and Phenotypic Indicators of Potential Lumefantrine Resistance
Sustained Efficacy of Artemether-Lumefantrine in Laos Despite Genomic and Phenotypic Indicators of Potential Lumefantrine Resistance Open
View article: Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants
Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants Open
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, UNmarked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinfo…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, UNmarked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinfo…
View article: Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis…
View article: Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 V…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinformatics predictions, minigen…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinformatics predictions, minigen…
View article: Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, marked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinform…
View article: Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 V…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, marked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinform…
View article: Deep intronic <i>NIPBL de novo</i> mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Deep intronic <i>NIPBL de novo</i> mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients Open
Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (R…
View article: Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants Open
View article: Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel Open
Diagnosis of lysosomal disorders (LDs) may be hampered by their clinical heterogeneity, phenotypic overlap, and variable age at onset. Conventional biological diagnostic procedures are based on a series of sequential investigations and req…
View article: Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those caus…
View article: Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation
Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation Open
View article: A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis Open
View article: Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes Open
View article: Additional file 8: of A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
Additional file 8: of A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis Open
Figure S5. Cytoskeletal organization is altered in HeLa cells overexpressing mutant ADGRL2. Seventy two hours after transfection, HeLa cells were processed for histochemistry using phalloidin conjugates for F-actin labelling (red), alpha-t…
View article: CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations
CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations Open
View article: Next Generation Sequencing Analysis of HIV-1 Group O Reverse Transcriptase Residue 181C Prevalence and Evolution over Time, With or Without Antiretroviral Selection Pressure
Next Generation Sequencing Analysis of HIV-1 Group O Reverse Transcriptase Residue 181C Prevalence and Evolution over Time, With or Without Antiretroviral Selection Pressure Open