Associated Papers
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.
Jitpasutham T et al.
Cancer Cytopathology, 2024
Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.
Matsuura M et al.
Bjc Reports, 2023
Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.
Pascual J et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.
Zhang Y et al.
Frontiers in Genetics, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.
Villafranca-Magdalena B et al.
International Journal of Molecular Sciences, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 2021
The spectrum of mutations predisposing to familial breast cancer in Poland.
Cybulski C et al.
International Journal of Cancer, 2019
Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.
Olivier M et al.
Plos One, 2019
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
Genetic alterations in signaling pathways in melanoma.
Haluska FG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR et al.
European Journal of Human Genetics : Ejhg, 1999