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.
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