Wieder N, D’Souza EN, Martin-Geary AC, et al. Differences in 5’untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome biology. 2024;25(1):111. doi:10.1186/s13059-024-03248-0
Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG advances. 2024:100273. doi:10.1016/j.xhgg.2024.100273
Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.27.23294269
Harms FL, Dingemans AJM, Hempel M, et al. de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100927. doi:10.1016/j.gim.2023.100927