CEP135

Publications

Shaheen et al. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 Mar;21(3):545-552. PMID: 30214071.

Rasool et al. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Mol Genet Genomic Med. 2020 Sep;8(9):e1408. PMID: 32677750.

Mahmood S et al. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet Journal of Rare Diseases. 2011;6: 39. PMID:21668957.

Hussain et al. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 4;90(5):871-8. PMID: 22521416.

Aryan et al. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly. Ir J Med Sci. 2022 Dec;191(6):2733-2741. PMID: 35031939.

Faheem et al. Molecular genetics of human primary microcephaly: an overview. BMC Med Genomics. 2015;8 Suppl 1(Suppl 1):S4. PMID: 25951892.

Naveed et al. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb). 2018 Aug 8;100:e7. PMID: 30086807.