Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 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
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
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Targeted_Sequencing
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
de Kock L et al.
Human Mutation, 2019
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.
Apellaniz-Ruiz M et al.
The New England Journal of Medicine, 2019
Distinct DICER1 Hotspot Mutations Identify Bilateral Tumors as Separate Events.
Chen KS et al.
Jco Precision Oncology, 2018
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
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
de Kock L et al.
Acta Neuropathologica, 2014
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
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