Associated Papers
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.
Mancuso G et al.
International Journal of Molecular Sciences, 2026
Jordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review.
Huang Y et al.
Translational Pediatrics, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.
Garg D et al.
Movement Disorders Clinical Practice, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown.
Young RE et al.
Hgg Advances, 2025
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.
L'Erario FF et al.
Genes, 2025
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.
Muir AM et al.
Hgg Advances, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I et al.
American Journal of Human Genetics, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Ambrose A et al.
Neurology. Genetics, 2025
A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons.
Carter JL et al.
Stem Cells (dayton, Ohio), 2025
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder.
Sudnawa KK et al.
Clinical Genetics, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?
Comisi F et al.
Pediatric Reports, 2024
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Autism spectrum disorder and various mechanisms behind it.
Rajabi P et al.
Pharmacology, Biochemistry, and Behavior, 2024
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K et al.
Scientific Reports, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
Jiang Y et al.
Children (basel, Switzerland), 2024
PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
Yau WY et al.
Parkinsonism & Related Disorders, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Early-onset levodopa responsive parkinsonism in PPP2R5D mutation.
Mahale R et al.
Parkinsonism & Related Disorders, 2024
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
A foundational atlas of autism protein interactions reveals molecular convergence.
Wang B et al.
Biorxiv : the Preprint Server for Biology, 2024
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
Kanner CH et al.
Orphanet Journal of Rare Diseases, 2024
B56δ long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations.
Wu CG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.
Zardetto B et al.
Human Mutation, 2024
An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.
Alhajaj G et al.
American Journal of Medical Genetics. Part A, 2023
Quantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades.
Smolen KA et al.
The Journal of Biological Chemistry, 2023