Associated Papers
Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.
Lee J et al.
Genes, 2025
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
PPP2R1A mutations portend improved survival after cancer immunotherapy.
Dai Y et al.
Nature, 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
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
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 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
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 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
Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms.
Stan A et al.
Plos One, 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
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
Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial.
Napolitano S et al.
Jama Oncology, 2023
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 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
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
Atypical uterine polyps show morphologic and molecular overlap with mullerian adenosarcoma but follow a benign clinical course.
Chapel DB et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Ng CC et al.
Frontiers in Molecular Biosciences, 2022
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.
Akin-Bali DF
Ophthalmic Genetics, 2021
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Verbinnen I et al.
Biochemical Society Transactions, 2021
Molecular profiling of basal cell carcinomas in young patients.
Abi Karam M et al.
Bmc Medical Genomics, 2021
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.
Aguilar M et al.
The Journal of Pathology, 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
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
Yang Q et al.
Neoplasia (new York, N.y.), 2020
Inactivation of PP2A by a recurrent mutation drives resistance to MEK inhibitors.
O'Connor CM et al.
Oncogene, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype.
Wallace A et al.
Journal of Pediatric Genetics, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma.
Piaggio F et al.
Cancers, 2019
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Recurrent PPP2R1A Mutations in Uterine Cancer Act through a Dominant-Negative Mechanism to Promote Malignant Cell Growth.
Haesen D et al.
Cancer Research, 2016
Molecular Analysis of Mixed Endometrial Carcinomas Shows Clonality in Most Cases.
Köbel M et al.
The American Journal of Surgical Pathology, 2016