ArticleJournal of medical genetics2022
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Expanding the Phenotypic Spectrum of DICER1 Syndrome: Case Report with Overgrowth, Macrocephaly, Multinodular Goiter, and Lung Cyst.Children (Basel, Switzerland) · 2026Article
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversity.European thyroid journal · 2025Review
- Human DICER1 hotspot mutation induces both loss and gain of miRNA function.Nature structural & molecular biology · 2025Article
- Human Dicer1 hotspot mutation induces both loss and gain of miRNA function.bioRxiv : the preprint server for biology · 2025Article
- DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.Biology · 2025Review
- A joint complex network and machine learning approach for the identification of discriminative gene communities in autistic brain.PloS one · 2025Article
- DICER ribonuclease removes harmful R-loops.Molecular cell · 2023Article
- Article
- Specifications of the ACMG/AMP Variant Classification Guidelines for GermlineHuman mutation · 2023Article
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGermline pathogenic variants in
methodsWhole genome sequencing, exome sequencing, Sanger sequencing, digital PCR and a review of Wilms tumours with
resultsA de novo heterozygous c.4031C>T (p.S1344L) variant in the sequence encoding the RNase IIIa domain of
conclusionThe phenotypic overlap between patients with p.S1344L mutation and GLOW syndrome provide clinical support for recent discoveries that RNase IIIa-Ser1344 site mutations impede miRNA-5p biogenesis analogous to
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