Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C et al.
Genome Research, 2024
39060028 (PubMed )
Supplement: Supplemental_Table_S8.xlsx › Table_S8
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS et al.
American Journal of Human Genetics, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc1.pdf
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Paul MS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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