Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.
Farcy S et al.
Cells, 2023
The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM.
Wu X et al.
Frontiers in Neuroscience, 2023
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P et al.
Human Mutation, 2018
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
The molecular landscape of ASPM mutations in primary microcephaly.
Nicholas AK et al.
Journal of Medical Genetics, 2009
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J et al.
American Journal of Human Genetics, 2003
Select a paper to view details