Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - Seyama, Rie; Uchiyama, Yuri; Ceroni, José Ricardo Magliocco; Kim, Veronica Eun Hue; Furquim, Isabel; Honjo, Rachel Sayuri; Castro, Matheus Augusto Araujo; Pires, Lucas Vieira Lacerda; Aoi, Hiromi; Kim, Chong Ae (Genomics, 2022)