Associated Papers
The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM.
Wu X et al.
Frontiers in Neuroscience, 2023
Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.
Broeckx BJG et al.
Bmc Bioinformatics, 2017
29191167 (PubMed )
Supplement: 12859_2017_1951_MOESM5_ESM.xls › Sheet1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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
What primary microcephaly can tell us about brain growth.
Cox J et al.
Trends in Molecular Medicine, 2006
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
Gul A et al.
Neurogenetics, 2006
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