Alazami AM et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 10: 148-161, 2015. PMID: 25558065.
Philips AK et al. Identification of C12orf4 as a gene for autosomal recessive intellectual disability. Clin Genet. 2017;91(1):100-105. PMID: 27311568.
Reuter MS et al. Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiatry 2017;74(3), 293–299. PMID 28097321.
Harripaul R et al. Mapping autosomal recessive intellectual disability: Combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018;23(4), 973–984. PMID: 28397838.
Maddirevula S et al. Autozygome and high throughput confirmation of disease genes candidacy. Genetics in Medicine 2018; 21(3), 736–742. PMID: 30237576.
Hancarova M et al. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype. Mol Genet Genomic Med 2019;23;7(9):e865. PMID 31334606.
C12orf4