Associated Papers
Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.
Mazaheri M et al.
Molecular Biology Reports, 2025
Neurological outcome in WDR62 primary microcephaly.
Ruaud L et al.
Developmental Medicine and Child Neurology, 2022
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Slezak R et al.
Genes, 2021
33921653 (PubMed )
Supplement: genes-12-00594-s001.zip › genes-1145756-supplementary.pdf
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M et al.
Journal of Applied Genetics, 2019
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
Naseer MI et al.
Pakistan Journal of Medical Sciences, 2019
De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.
Ameur A et al.
Genes, 2018
30304863 (PubMed )
Supplement: genes-09-00486-s001.zip › Data_S2.xlsx › Swe1_NS_BLAST
The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.
Shohayeb B et al.
Molecular Neurobiology, 2018
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
Nardello R et al.
Brain & Development, 2018
Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.
Bastaki F et al.
Congenital Anomalies, 2016
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Naseer MI et al.
Annals of Saudi Medicine, 0
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