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
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
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Hussain S et al.
Biotechnology and Applied Biochemistry, 2022
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
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Waseem SS et al.
Genes, 2021
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
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
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
Ahmed J et al.
Jpma. the Journal of the Pakistan Medical Association, 2019
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
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I et al.
Clinical Genetics, 2017
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
Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M et al.
Clinical Genetics, 2013
Critical consequences of finding three pathogenic mutations in an individual with recessive disease.
Halsall S et al.
Journal of Medical Genetics, 2010
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
Kousar R et al.
Journal of Child Neurology, 2010
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
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
Gul A et al.
Journal of Neurogenetics, 0