Associated Papers
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.
Hashmi HB et al.
Neurogenetics, 2025
Expanding the mutational spectrum of congenital microcephaly in Pakistani families.
Farooq S et al.
Frontiers in Genetics, 2025
The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM.
Wu X et al.
Frontiers in Neuroscience, 2023
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
Naqvi SF et al.
Genetic Testing and Molecular Biomarkers, 2022
Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.
Khan NM et al.
Frontiers in Pediatrics, 2021
Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
Batool T et al.
Brazilian Journal of Biology = Revista Brasleira De Biologia, 2021
Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
Khan A et al.
Genetic Testing and Molecular Biomarkers, 2018
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
Khan MA et al.
Journal of Genetics, 2017
Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Tan CA et al.
Clinical Genetics, 2014
Compound heterozygous ASPM mutations in Pakistani MCPH families.
Muhammad F et al.
American Journal of Medical Genetics. Part A, 2009
The molecular landscape of ASPM mutations in primary microcephaly.
Nicholas AK et al.
Journal of Medical Genetics, 2009
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
Gul A et al.
Journal of Neurogenetics, 0
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