Dévina C. Ung
Université de Tours(FR)Inserm(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Cellular transport and secretion, Ubiquitin and proteasome pathways, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse(2017)86 cited
- → Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome(2021)40 cited
- → Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders(2023)39 cited
- Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.(2014)
- → Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth(2021)18 cited
- → Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder(2021)15 cited
- → Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability(2018)10 cited
- → GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses(2024)7 cited
- → Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1(2023)3 cited
- → Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2(2025)2 cited