Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
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
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
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
Primary microcephaly caused by novel compound heterozygous mutations in ASPM.
Okamoto N et al.
Human Genome Variation, 2018
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Rump P et al.
Bmc Medical Genomics, 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
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