Associated Papers
Identification of mutation in ASPM gene in microcephaly families from Khyber Pakhtunkhwa.
Shah AWA et al.
Molecular Biology Reports, 2025
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Paracha SA et al.
Frontiers in Medicine, 2024
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
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
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P et al.
Human Mutation, 2018
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 analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
Wang R et al.
Journal of Human 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
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
Gul A et al.
Neurogenetics, 2006
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
Kumar A et al.
Clinical Genetics, 2004
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J et al.
American Journal of Human Genetics, 2003
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