Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes - Lansdon, Lisa A.; Dickinson, Amanda; Arlis, Sydney; Liu, Huan; Hlas, Arman; Hahn, Alyssa; Bonde, Greg; Long, Abby; Standley, Jennifer; Tyryshkina, Anastasia; Wehby, George; Lee, Nanette R.; et al. (American journal of human genetics, 2023)
Keywords: ARHGEF38; Cleft Lip - genetics; cleft lip and palate; Cleft Palate - genetics; COBLL1; congenital anomalies; copy number variants; craniofacial; Danio rerio; DNA Copy Number Variations; Genome-Wide Association Study; Guanine Nucleotide Exchange Factors - genetics; Humans; Phenotype; RIC1; Transcription Factors - genetics; Xenopus laevis; RIC1; cleft lip and palate; Xenopus laevis; COBLL1; Danio rerio; ARHGEF38; craniofacial; copy number variants; congenital anomalies