Associated Papers
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Fellows BJ et al.
American Journal of Medical Genetics. Part A, 2024
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S et al.
Human Mutation, 2020
First clinical report of an infant with microcephaly and CASC5 mutations.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2016
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski S et al.
Human Genetics, 2016
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