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
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
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
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom EUH et al.
Genes, 2021
RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.
Adnan Awad S et al.
Leukemia, 2021
32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutations_of_BP-CML_cohort
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP et al.
Human Genetics, 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
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
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
Kousar R et al.
Journal of Child Neurology, 2010
Compound heterozygous ASPM mutations in Pakistani MCPH families.
Muhammad F et al.
American Journal of Medical Genetics. Part A, 2009
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