Associated Papers
SOMATIC GENE VARIANTS IN UNRESECTABLE CUTANEOUS MELANOMA CELLS AND DETECTION OF PHARMACOGENOMIC MARKERS: INFLUENCE ON STRATEGY OF EFFECTIVE CANCER TREATMENT.
Gulkovskyi R et al.
Experimental Oncology, 2025
Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.
Caputo C et al.
Molecular Therapy. Oncology, 2025
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.
Mui L et al.
Genes, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.
Li Q et al.
Pediatric Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.
Goebel EA et al.
Genes, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
LYRUS: a machine learning model for predicting the pathogenicity of missense variants.
Lai J et al.
Bioinformatics Advances, 2022
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 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
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.
Yotsumoto Y et al.
Molecular and Clinical Oncology, 2020
Therapeutic management of neuro-oncologic patients - potential relevance of CSF liquid biopsy.
von Baumgarten L et al.
Theranostics, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
Hansen-Kiss E et al.
Journal of Medical Genetics, 2017
Prediction for response duration to epidermal growth factor receptor-tyrosine kinase inhibitors in EGFR mutated never smoker lung adenocarcinoma.
Kim HR et al.
Lung Cancer (amsterdam, Netherlands), 2014
NGS-based profiling of key cancer genes in Indian triple-negative breast cancer patients reinforces molecular heterogeneity of the disease.
Sahasrabuddhe NA et al.
Indian Journal of Cancer, 0