Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.
Zhang L et al.
Frontiers in Genetics, 2022
36685824 (PubMed )
Supplement: DataSheet1.doc
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S et al.
Human Mutation, 2020
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL et al.
American Journal of Human Genetics, 2010
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