Associated Papers
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M et al.
Npj Genomic Medicine, 2024
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Bacchelli E et al.
Research Square, 2023
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_Missense_Variants
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