Associated Papers
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.
Kayhan G et al.
Genes, 2026
Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.
Wightman DP et al.
American Journal of Human Genetics, 2026
Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.
Regan JA et al.
Plos One, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.
Lv C et al.
Nature Aging, 2025
Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder.
Fernandez A et al.
Autism Research : Official Journal of the International Society for Autism Research, 2025
Mapping cryptic phosphorylation sites in the human proteome.
Gasparotto D et al.
The Embo Journal, 2025
PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.
Janku F et al.
Jco Precision Oncology, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Ewing sarcoma of the rib with a rare PTEN mutation.
Fallon P et al.
Cancer Genetics, 2025
Dominant Negative PTEN Alterations in Endometrial Carcinoma Are Associated With Retained Immunohistochemical PTEN Expression.
Keyhanian K et al.
The American Journal of Surgical Pathology, 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
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.
Kaczorowski M et al.
The Journal of Pathology. Clinical Research, 2025
Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.
Li Q et al.
Pediatric Neurology, 2025
Altered primary somatosensory neuron development in a Pten heterozygous model for autism spectrum disorder.
Fernandez A et al.
Biorxiv : the Preprint Server for Biology, 2025
Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.
Regan JA et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.
Jun HJ et al.
Iscience, 2024
Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.
Varachev V et al.
International Journal of Molecular Sciences, 2024
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H et al.
Journal of Medical Genetics, 2024
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 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
In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes.
Fasano C et al.
Cells, 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
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Cancer and Autism: How PTEN Mutations Degrade Function at the Membrane and Isoform Expression in the Human Brain.
Jang H et al.
Journal of Molecular Biology, 2023
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E et al.
Pediatric Neurology, 2023
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS et al.
Nature, 2023
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.
Yu Z et al.
The Journal of Clinical Investigation, 2023
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H et al.
Nature Medicine, 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.
Langdon CG
Biomolecules, 2023
How PTEN mutations degrade function at the membrane and life expectancy of carriers of mutations in the human brain.
Jang H et al.
Biorxiv : the Preprint Server for Biology, 2023
Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in PTEN-Associated Mutations in Autism and Cancer.
Smith IN et al.
The Journal of Physical Chemistry. B, 2023
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger S et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.
Cetintas VB et al.
Journal of Biomolecular Structure & Dynamics, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Zhang Y et al.
Neuro-oncology, 2022