Associated Papers
Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.
Stawarski M et al.
Brain : a Journal of Neurology, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.
Veronese A et al.
Neuropediatrics, 2025
Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.
Veronese A et al.
Neuropediatrics, 2025
Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant.
Minere M et al.
Brain : a Journal of Neurology, 2025
Genetic implication of GABAB receptors in the etiology of neurological and psychiatric disorders.
Gassmann M et al.
Frontiers in Pharmacology, 2025
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Widening phenotypic spectrum of GABBR2 mutation.
Samanta D et al.
Acta Neurologica Belgica, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities.
Gold WA et al.
Acs Chemical Neuroscience, 2018
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume ML et al.
Annals of Neurology, 2018
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
Carneiro TN et al.
The Application of Clinical Genetics, 2018
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y et al.
Annals of Neurology, 2017
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Lucariello M et al.
Human Genetics, 2016
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F et al.
Journal of Medical Genetics, 2016
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015