Yline Capri

This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

The paper identifies loss-of-function variants in ADAMTS6 in patients with vascular and neurodevelopmental disorders, linking them to connective tissue defects and proposing a new syndrome called CHANS.

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.