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
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R et al.
Frontiers in Genetics, 2020
33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S1__Ultra-rare_variants_observed_for_231_CHD_samples_including_gnomAD_o_e_constraint_scores.XLSX › All_LoF_Variants
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