Associated Papers
Exome sequencing uncovers promising candidate genes for foetal structural malformations.
Sudhakar DV et al.
The Indian Journal of Medical Research, 2025
Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.
Almeida JV 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
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
32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf
Normal early development in siblings with novel compound heterozygous variants in ASPM.
Moriwaki T et al.
Human Genome Variation, 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
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Abdel-Hamid MS et al.
American Journal of Medical Genetics. Part A, 2016
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
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