Marie‐Noëlle Bonnet‐Dupeyron
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View article: KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome Open
Rare variants affecting the epigenetic regulator KDM2B cause a recently delineated neurodevelopmental disorder. Interestingly, we previously identified both a general KDM2B-associated episignature and a subsignature specific to variants in…
View article: P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder Open
Despite significant advances in knowledge over recent decades, the role of most protein-coding genes remains unknown. Exome sequencing continues to provide opportunities to improve our current understanding of the human genome by elucidati…
View article: Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Open
View article: Functional analysis of germline <i>VANGL2</i> variants using rescue assays of <i>vangl2</i> knockout zebrafish
Functional analysis of germline <i>VANGL2</i> variants using rescue assays of <i>vangl2</i> knockout zebrafish Open
Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain, spinal cord, heart and sensory organs,…
View article: Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort Open
The use of multigene panel testing for patients with a predisposition to Hereditary Breast and Ovarian Cancer syndrome (HBOC) is increasing as the identification of mutations is useful for diagnosis and disease management. Here, we conduct…
View article: Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Open
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to h…
View article: Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters Open
View article: Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach Open
View article: Alpha Satellite Insertion Close to an Ancestral Centromeric Region
Alpha Satellite Insertion Close to an Ancestral Centromeric Region Open
Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromer…
View article: Alpha satellite insertion close to an ancestral centromeric region
Alpha satellite insertion close to an ancestral centromeric region Open
Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromer…
View article: Oxidative stress and mitochondrial dynamics malfunction are linked in <scp>P</scp>elizaeus‐<scp>M</scp>erzbacher disease
Oxidative stress and mitochondrial dynamics malfunction are linked in <span>P</span>elizaeus‐<span>M</span>erzbacher disease Open
Pelizaeus‐Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD is caused by variations in the prot…
View article: Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma Open