Associated Papers
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN et al.
Brain : a Journal of Neurology, 2025
39692517 (PubMed )
Supplement: awae363_supplementary_data.zip › brain-2024-01175-File015.xlsx › Sheet1
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Ikegami M et al.
Communications Biology, 2021
34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N et al.
Journal of Human Genetics, 2021
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Behjati S et al.
Nature Communications, 2017
28643781 (PubMed )
Supplement: ncomms15936-s5.xlsx › Driver_list
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