Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Servi J.C. Stevens, Luis A. Pérez‐Jurado et al.|Genetics in Medicine|2022Cited by 50
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Philippe M. Campeau, Yoshiko Murakami et al.|The American Journal of Human Genetics|2020Cited by 41
<i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Claudia Raveli, Sara A. Lewis et al.|Brain|2023Cited by 7
Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia AYohann Jourdy, Christine Vinciguerra, Fabienne Volot et al.|Journal of Thrombosis and Haemostasis|2024Cited by 7