Yasemin Alanay

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

This paper evaluates 52 in silico pathogenicity predictors (ISPPs) for missense variants and introduces VAMPP-score, a statistical framework that improves variant classification by integrating the best-performing predictors.

The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.