Associated Papers
Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.
Wightman DP et al.
American Journal of Human Genetics, 2026
Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.
Pithadia DJ et al.
Blood Vessels, Thrombosis & Hemostasis, 2026
Population-based Characterization of PTEN Hamartoma Tumor Syndrome.
Ni Y et al.
Research Square, 2026
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.
Mancuso G et al.
International Journal of Molecular Sciences, 2026
Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.
Rogalidou M et al.
Reports (mdpi), 2026
Decoding the Mutational Hierarchy of Thyroid Cancer and Associated Signaling Pathways.
Nashier D et al.
Archives of Medical Research, 2026
Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.
Plitt G et al.
Surgery, 2026
Population-based Characterization of PTEN Hamartoma Tumor Syndrome.
Idumah G et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.
Jesus TT et al.
Npj Precision Oncology, 2025
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
Diagnosing the silent: the molecular landscape of non-functional parathyroid carcinoma.
Jentus MM et al.
Virchows Archiv : an International Journal of Pathology, 2025
Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.
Schmalz D et al.
International Journal of Molecular Sciences, 2025
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.
Xue S et al.
Virchows Archiv : an International Journal of Pathology, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Precancerous Cells Initiate Glioblastoma Evolution and Contribute to Intratumoral Heterogeneity.
Kim HJ et al.
Cancer Discovery, 2025
Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.
Nedjadi T et al.
Scientific Reports, 2025
Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant.
Yu QX et al.
Prenatal Diagnosis, 2025
Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.
Dakal TC et al.
Neuroscience, 2025
A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome-A Case Report.
Gebhart P et al.
Pediatric Reports, 2025
Papillary Thyroid Carcinoma With 5 Unique Point Mutations and Typical Behavior.
Chauhan A et al.
Jcem Case Reports, 2025
Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes.
Torices L et al.
Iubmb Life, 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
The Histomorphology to Molecular Transition: Exploring the Genomic Landscape of Poorly Differentiated Epithelial Endometrial Cancers.
Molefi T et al.
Cells, 2025
POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
DeSpenza T et al.
Nature Neuroscience, 2025
Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.
Farshid G et al.
Pathology, 2025
Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.
Farshid G et al.
Pathology, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.
Barrón-Márquez MC et al.
The American Journal of Case Reports, 2025
Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.
Hall MJ et al.
Frontiers in Oncology, 2025
Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.
Varachev V et al.
International Journal of Molecular Sciences, 2024
Expanding the Molecular Spectrum of Carcinoma Ex Pleomorphic Adenoma: An Analysis of 84 Cases With a Novel HMGA2::LINC02389 Fusion.
de Lima-Souza RA et al.
The American Journal of Surgical Pathology, 2024
The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.
Plitt G et al.
Cancer Research, 2024
Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.
Wei R et al.
Plos Computational Biology, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
Potentiation by Protein Synthesis Inducers of Translational Readthrough of Pathogenic Premature Termination Codons in PTEN Isoforms.
Torices L et al.
Cancers, 2024
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
MacFarland SP et al.
American Journal of Medical Genetics. Part A, 2024
Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity.
Rossi MS et al.
Cureus, 2024
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Corso G et al.
Jama Network Open, 2024
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024