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
Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.
Lee J et al.
Genes, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Ppp2r1a haploinsufficiency increases excitatory synaptic transmission and decreases spatial learning by impairing endocannabinoid signaling.
Wang Y et al.
The Journal of Clinical Investigation, 2025
The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.
Hamill C et al.
Prenatal Diagnosis, 2025
Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2024
Genomic profiling of ovarian clear cell carcinoma in Chinese patients reveals potential prognostic biomarkers for survival.
Ye S et al.
Annals of Medicine, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Ovarian RASoma With Mesonephric-like Adenocarcinoma and Mixed Mullerian Components: A Case Report With Molecular Analysis Demonstrating Multidirectional Mullerian Differentiation.
Stolnicu S et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2023
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Roldán M et al.
International Journal of Molecular Sciences, 2023
Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.
Qian Y et al.
Genes, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T et al.
Prenatal Diagnosis, 2023
Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.
Lei T et al.
Genes, 2023
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK et al.
American Journal of Medical Genetics. Part A, 2022
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.
Ramberg I et al.
Investigative Ophthalmology & Visual Science, 2021
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring MET exon 14 mutation: a research report.
Roth KG et al.
Cold Spring Harbor Molecular Case Studies, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Heide S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.
Zhang Y et al.
Neuroscience Bulletin, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype.
Wallace A et al.
Journal of Pediatric Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium.
Suda K et al.
Cell Reports, 2018
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 2017
Recurrent PPP2R1A Mutations in Uterine Cancer Act through a Dominant-Negative Mechanism to Promote Malignant Cell Growth.
Haesen D et al.
Cancer Research, 2016
Mammary analog secretory carcinoma of the thyroid gland: A primary thyroid adenocarcinoma harboring ETV6-NTRK3 fusion.
Dogan S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G et al.
The Journal of Clinical Investigation, 2015
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown Author
Nature, 2015
Use of mutation profiles to refine the classification of endometrial carcinomas.
McConechy MK et al.
The Journal of Pathology, 2012
HEAT repeat 1 motif is required for B56γ-containing protein phosphatase 2A (B56γ-PP2A) holoenzyme assembly and tumor-suppressive function.
Nobumori Y et al.
The Journal of Biological Chemistry, 2012
Subtype-specific mutation of PPP2R1A in endometrial and ovarian carcinomas.
McConechy MK et al.
The Journal of Pathology, 2011