Associated Papers
Neurological outcome in WDR62 primary microcephaly.
Ruaud L et al.
Developmental Medicine and Child Neurology, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
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
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
The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
Shohayeb B et al.
Human Molecular Genetics, 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
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Opposing roles for JNK and Aurora A in regulating the association of WDR62 with spindle microtubules.
Lim NR et al.
Journal of Cell Science, 2015
A novel single base pair duplication in WDR62 causes primary microcephaly.
Rupp V et al.
Bmc Medical Genetics, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
Poulton CJ et al.
American Journal of Medical Genetics. Part A, 2014
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
McDonell LM et al.
Bmc Neurology, 2014
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
Farag HG et al.
Orphanet Journal of Rare Diseases, 2013
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Bhat V et al.
Clinical Genetics, 2011
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
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas AK 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