Associated Papers
Expanding the mutational spectrum of congenital microcephaly in Pakistani families.
Farooq S et al.
Frontiers in Genetics, 2025
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N et al.
Annals of Human Genetics, 2022
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Khan NM et al.
Biomed Research International, 2022
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
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
Cueto-González AM et al.
Human Genome Variation, 2020
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N et al.
Clinical Genetics, 2016
Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M et al.
Clinical Genetics, 2013
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