Associated Papers
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
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
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
Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
Steward CA et al.
Genome Medicine, 2017
A novel single base pair duplication in WDR62 causes primary microcephaly.
Rupp V et al.
Bmc Medical Genetics, 2014
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
Kousar R et al.
Bmc Neurology, 2011
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Yu TW et al.
Nature Genetics, 2010
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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