Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
DICER1 mutations in Bethesda category II, III, and IV thyroid nodules: A mutually exclusive relationship with BRAFV600E mutation.
Wang Y et al.
Cancer Cytopathology, 2025
DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.
Salvador L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN et al.
Human Mutation, 2023
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.
Vibert R et al.
Clinical Chemistry, 2022
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Pontén E et al.
Journal of Medical Genetics, 2022
Investigation of discrepant mismatch repair immunohistochemistry and microsatellite instability polymerase chain reaction test results for gynecologic cancers using next-generation sequencing.
Smithgall MC et al.
Human Pathology, 2022
Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse.
Ciceri S et al.
Cancer Gene Therapy, 2021
DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.
Apellaniz-Ruiz M et al.
Genes, Chromosomes & Cancer, 2021
Genomic, transcriptomic, and viral integration profiles associated with recurrent/metastatic progression in high-risk human papillomavirus cervical carcinomas.
Liu JJ et al.
Cancer Medicine, 2020
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
de Kock L et al.
Human Mutation, 2019
DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation.
Bean GR et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.
Khan NE et al.
Pediatric Nephrology (berlin, Germany), 2018
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.
Wu MK et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
de Kock L et al.
British Journal of Cancer, 2017
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model.
Brenneman M et al.
F1000research, 2015
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.
Klein S et al.
Journal of Medical Genetics, 2014