A5002879979- Genomics and Rare Diseases
- Retinal Development and Disorders
- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Retinal Diseases and Treatments
- Cancer Genomics and Diagnostics
- Scientific Computing and Data Management
- RNA and protein synthesis mechanisms
- Ocular Disorders and Treatments
- Neurobiology and Insect Physiology Research
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Invertebrate Immune Response Mechanisms
- Research Data Management Practices
- Nuclear Structure and Function
- Glaucoma and retinal disorders
- Cardiomyopathy and Myosin Studies
- Web and Library Services
- Software Engineering Techniques and Practices
- Hemoglobinopathies and Related Disorders
- Photochromic and Fluorescence Chemistry
- Connective tissue disorders research
- Library Collection Development and Digital Resources
- Speech Recognition and Synthesis
- Environmental DNA in Biodiversity Studies
Université de Montpellier
2017-2025
Centre Hospitalier Universitaire de Montpellier
2020-2025
Génétique Médicale & Génomique Fonctionelle
2024
Hôpital Arnaud de Villeneuve
2018-2023
Groupe d'Etudes et de Recherche Interdisciplinaire en Information et Communication
2019
Université de Lille
2019
Institut de Génétique Moléculaire de Montpellier
2019
Maladies Infectieuses et Vecteurs: Écologie, Génétique, Évolution et Contrôle
2018
Centre National de la Recherche Scientifique
2010
Inserm
2004-2010
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...
Abstract With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount genomic data including millions small variants (SNV/indel) but also thousands structural variations (SV) mainly from next-generation sequencing and array-based techniques. While identification complete SV repertoire a patient is getting possible, interpretation each remains challenging. To help identifying human pathogenic SV, we developed web server dedicated to their annotation ranking...
MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in context molecular diagnosis. It brings together a single tool many sources data, such as population genetics, various kinds predictors, Human Genome Variation Society (HGVS) nomenclatures, curated databases, and access to annotations. Accurate crucial can impact patient care or have familial outcomes (prenatal diagnosis). Its importance will increase coming years with...
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by cone retina. A genetic diagnosis for IRDs is challenging since >280 genes associated with these conditions. While whole exome sequencing (WES) commonly used diagnostic facilities, costs required infrastructure prevent its global applicability. Previous studies have shown cost-effectiveness sequence analysis using...
Abstract Much of the human genetics variant repertoire is composed single nucleotide variants (SNV) and small insertion/deletions (indel) but structural (SV) remain a major part our modified DNA. SV detection has often been complex question to answer either because necessity use different technologies (array CGH, SNP array, Karyotype, Optical Genome Mapping…) detect each category or get an appropriate resolution (Whole Sequencing). Thanks deluge pangenomic analysis, Human geneticists are...
Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification of causative AluY insertion in genetically unsolved individual with typical KS1 features, after DNA methylation signature. This first documentation Alu as molecular mechanism responsible for KS1. study emphasizes need reanalyzing inconclusive sequencing data individuals gene-specific phenotypes...
In this study, we report a novel duplication causing North Carolina macular dystrophy (NCMD) identified applying whole genome sequencing performed on eight affected members of two presumed unrelated families mapping to the MCDR1 locus. our families, NCMD phenotype was associated with 98.4 kb tandem encompassing entire CCNC and PRDM13 genes common DNase 1 hypersensitivity site. To study impact or dysregulation, used Drosophila eye development as model. Knock-down overexpression CycC CG13296,...
The isomerization of all-trans retinol (vitamin A) to 11-cis in the retinal pigment epithelium (RPE) is a key step visual process for regeneration chromophore, retinal. LRAT and RPE65 are recognized as minimal isomerase catalytic components. However, regulators this rate-limiting not fully identified could account phenotypic variability associated with inherited degeneration (RD) caused by mutations gene. To identify new partners, we screened porcine RPE mRNA library using yeast two-hybrid...
Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints.Here we report a patient mild intellectual deficiency who carries de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No was found but the chromosome 5 breakpoint localized 228-kb upstream of MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only long non-coding...
Introduction Accurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis risk assessment. In this report, we characterized an intragenic duplication breakpoint PALB2 to determine its pathogenicity significance. Methods A 52-year-old female with triple-negative breast cancer was diagnosed a novel LGR. An efficient accurate methodology applied, combining long-read sequencing transcript analysis the rapid...
The transition from targeted to exome or genome sequencing in clinical contexts requires quality standards, such as sequencing, order be fully adopted. However, no clear recommendations methodology have emerged for evaluating this technological evolution. We developed a structured method based on four run-specific metrics and seven sample-specific the performance of strategies replace strategies. indicators include coverage gene panels OMIM morbid genes. applied general strategy three...
Abstract Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by cone retina. A genetic diagnosis for IRDs is challenging since >280 genes associated with these conditions. While whole exome sequencing (WES) commonly used diagnostic facilities, costs required infrastructure prevent its global applicability. Previous studies have shown cost-effectiveness sequence analysis using...