Associated Papers
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
Structural basis of substrate recognition by human tRNA splicing endonuclease TSEN.
Sekulovski S et al.
Nature Structural & Molecular Biology, 2023
What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?
Sekulovski S et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023
Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex.
Hayne CK et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.
Sekulovski S et al.
Nature Communications, 2021
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Breuss MW et al.
American Journal of Human Genetics, 2016
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