Associated Papers
Thyroblastoma as a manifestation of DICER1 syndrome with confirmed germline mutation and comprehensive literature review.
Yin L et al.
Virchows Archiv : an International Journal of Pathology, 2026
Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1 -Associated Entity, a Case Report and Literature Review.
Razack R et al.
Diagnostic Cytopathology, 2025
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging.
Murdocca M et al.
Mechanisms of Ageing and Development, 2023
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
Nunziato M et al.
Frontiers in Medicine, 2022
POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.
Chen YX et al.
Clinical and Translational Medicine, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M et al.
Frontiers in Genetics, 2020
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde CD et al.
The Journal of Clinical Investigation, 2019
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.
Lorca V et al.
Scientific Reports, 2019
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Kayser K et al.
International Journal of Cancer, 2018
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M et al.
Familial Cancer, 2018
A rare malignant thyroid carcinosarcoma with aggressive behavior and DICER1 gene mutation: a case report with literature review.
Yang J et al.
Thyroid Research, 2018
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
Raskin L et al.
Oncotarget, 2017
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC et al.
Leukemia, 2016