Marie Vincent
A5073816426- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Biochemical and Molecular Research
- RNA modifications and cancer
- RNA Research and Splicing
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Ubiquitin and proteasome pathways
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Cleft Lip and Palate Research
- RNA regulation and disease
- Craniofacial Disorders and Treatments
- Autism Spectrum Disorder Research
- Connective tissue disorders research
- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Congenital Ear and Nasal Anomalies
- Prenatal Screening and Diagnostics
- Mitochondrial Function and Pathology
- Congenital limb and hand anomalies
- Cytomegalovirus and herpesvirus research
- Chromatin Remodeling and Cancer
- Amino Acid Enzymes and Metabolism
Institut du Thorax
2018-2025
Inserm
2015-2025
Centre National de la Recherche Scientifique
2017-2025
Centre Hospitalier Universitaire de Nantes
2016-2025
Nantes Université
2013-2025
Génétique Médicale & Génomique Fonctionelle
2016-2025
Hôpital Mère-Enfant
2015-2025
Children's Hospital of Philadelphia
2024
University of Pennsylvania
2024
VIB-UGent Center for Inflammation Research
2024
PurposeTo assess the contribution of rare variants in genetic background toward variability neurodevelopmental phenotypes individuals with copy-number (CNVs) and gene-disruptive variants.MethodsWe analyzed quantitative clinical information, exome sequencing, microarray data from 757 probands 233 parents siblings who carry disease-associated variants.ResultsThe number likely deleterious functionally intolerant genes (“other hits”) correlated expression 16p12.1 deletion (n=23, p=0.004) autism...
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure (IBMFS) that primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond (sbds) gene. Using trio whole-exome sequencing (WES) an sbds-negative SDS family candidate gene additional SBDS-negative cases or molecularly undiagnosed IBMFS cases, we identified 3...
PurposeTreacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with prevalence of 0.2–1/10,000. Features include bilateral and symmetrical malar mandibular hypoplasia facial abnormalities due to abnormal neural crest cell (NCC) migration differentiation. To date, three genes have been identified: TCOF1, POLR1C, POLR1D. Despite large number patients molecular diagnosis, some remain without known genetic anomaly.MethodsWe performed exome sequencing for four...
The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 modulating actin cytoskeleton remodeling. Pathogenic variants in are associated with neurodevelopmental diseases, including intellectual disability (ID) autism spectrum disorders (ASD). Here, we report largest international cohort 24 individuals confirmed pathogenic missense or nonsense TRIO. mutations spread...
PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an inhibitor oncology, showed promising results preclinical models patients. Here, we report first time outcome of two infants PROS having life-threatening treated alpelisib (25 mg) monitored pharmacokinetics. Patient 1 was 8-mo-old girl voluminous vascular malformation. 2 a 9-mo-old boy...
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures distinct, highly sensitive, and specific biomarkers that have recently been applied clinical diagnosis syndromes. contained within the broader disorder-specific changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment comparison overlapping changes related 65 with...
<h3>Introduction</h3> Little is known on whether cigarette filter-related knowledge or beliefs are associated with support for policies to reduce their environmental impact. <h3>Methods</h3> A cross-sectional, population-based sample of US adults aged 18–64 years (n=2979) was used evaluate and by smoking status using data collected between 24 October 2018 17 December 2018. Multivariate logistic regression models explored these belief items were two policies, a US$0.75 litter fee ban sales...
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, contribution genes located in this region to specific features remains uncertain. Among those, three genes, AKT3, HNRNPU ZBTB18 are highly expressed brain point mutations these have been recently identified children with neurodevelopmental phenotypes. In study, we...
Abstract Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation Massively Parallel Sequencing (MPS) in diagnostic laboratories greatly improving possibilities offering optimal care to patients. We present results a two-year period molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS 74 genes, (iii) additional approaches...
Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) intellectual disability (ID) autism disorders (ASD). Yet, underlying mechanisms are still incompletely understood. To further elucidate genotype-phenotype correlation SCN2A we investigated functional effects six representing phenotypic by whole-cell patch-clamp...
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the diagnosis rates of AMC, evaluate added value whole exome sequencing (WES) compared with targeted (TES) identify new genes 315 unrelated undiagnosed families. Methods Several genomic approaches used including mapping disease loci consanguineous families, TES then WES. Sanger was...
To provide new insights into the FOXG1-related clinical and imaging phenotypes refine phenotype-genotype correlation in FOXG1 syndrome.We analyzed of a cohort 45 patients with pathogenic or likely variant performed correlations.A total 37 different heterozygous mutations were identified, which 18 are novel. We described broad spectrum neurodevelopmental phenotypes, characterized by severe postnatal microcephaly developmental delay accompanied hyperkinetic movement disorder, stereotypes sleep...