Éléonore Viora-Dupont
A5069259899- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Congenital heart defects research
- Chromatin Remodeling and Cancer
- Craniofacial Disorders and Treatments
- Fetal and Pediatric Neurological Disorders
- BRCA gene mutations in cancer
- Genetic and rare skin diseases.
- Biomedical Ethics and Regulation
- Cleft Lip and Palate Research
- Hedgehog Signaling Pathway Studies
- Pediatric Urology and Nephrology Studies
Inserm
2023-2024
Université de Bourgogne
2023-2024
CHU Dijon Bourgogne
2021-2024
Université Bourgogne Franche-Comté
2023
Maison des Sciences de l’Homme de Dijon
2022
Hôpital d'Enfants
2021
Although haploinsufficiency of ANKRD11 is among the most common genetic causes neurodevelopmental disorders, role rare missense variation remains unclear. We characterized clinical, molecular, and functional spectra variants.
Abstract It has been estimated that Copy Number Variants (CNVs) account for 10%–20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID). Although array comparative genomic hybridization (array‐CGH) represents the gold‐standard detection imbalances, common Agilent array‐CGH 4 × 180 kb arrays fail to detect CNVs smaller than 30 kb. Whole Exome sequencing (WES) is becoming reference application gene variants and makes it possible also infer imbalances at single exon...
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject debate around the world particularly Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) collect their real-life experience until 1 year after delivery results. 340 patients who had ES for undiagnosed developmental disorders were included this multicenter mixed (quantitative N = 340; qualitative 26). Three groups...
13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization patients with continues to expand the phenotypic spectrum associated it. Previous studies identified four genes within approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 HMGB1. To date, no carrying sequence-level variant or single gene deletion in HMGB1 have been described. Here we report six loss-of-function variants...
Grange syndrome (GRNG-MIM#135580) is a rare recessive disorder associating variable features including diffuse vascular stenosis, brachysyndactyly, osteopenia with increased bone fragility, cardiac malformations, and developmental delay. Since its first description in 1998, only 15 individuals from 10 families have been reported, carrying homozygous or compound heterozygous frameshift nonsense variants YY1AP1. In patient cutaneous syndactyly hemorrhagic stroke at the age of 16 months,...
Abstract Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes neurodevelopmental disorders, role rare missense variation remains unclear. We characterized clinical, molecular and functional spectra variants. Methods collected clinical information individuals with variants evaluated phenotypic fit to KBG syndrome. assessed pathogenicity by in silico analyses cell-based experiments. Results identified 29 (mostly de novo ) variants, who presented syndromic...