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Advanced filters: Author: Daan Gilissen Clear advanced filters

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

Mathieu Quinodoz
Kim Rodenburg
Carlo Rivolta
ResearchOpen Access09 Jan 2026
Nature Genetics

Volume: 58, P: 169-179
High expression of an intragenic long noncoding RNA misinterpreted as high FTO oncogene expression in NPM1 mutant acute myeloid leukemia

Saioa Arza-Apalategi
Branco M. H. Heuts
Bert A. van der Reijden
Research18 Feb 2023
Leukemia

Volume: 37, P: 901-904
HMX3 is a critical vulnerability in MECOM-negative KMT2A::MLLT3 acute myelomonocytic leukemia

Saioa Arza-Apalategi
Branco M. H. Heuts
Bert A. van der Reijden
Research04 Dec 2024
Leukemia

Volume: 39, P: 371-380
GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation

Using patient-derived induced pluripotent stem cells, the authors show that the transcription factor GFI1B and the lysine demethylase KDM1A/LSD1 promote gene programs while repressing those involved in myeloid differentiation.

Jeron Venhuizen
Maaike G. J. M. van Bergen
Bert A. van der Reijden
ResearchOpen Access28 Mar 2024
Communications Biology

Volume: 7, P: 1-9
The heat shock response restricts virus infection in Drosophila

Sarah H. Merkling
Gijs J. Overheul
Ronald P. van Rij
ResearchOpen Access03 Aug 2015
Scientific Reports

Volume: 5, P: 1-15