Associated Papers
DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.
Kingsley G et al.
Nucleic Acids Research, 2023
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Nerakh G et al.
American Journal of Medical Genetics. Part A, 2022
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
Knapp KM et al.
Journal of Medical Genetics, 2020
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca E et al.
American Journal of Medical Genetics. Part A, 2019
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
Schulz S et al.
European Journal of Human Genetics : Ejhg, 2018
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ et al.
Nature Genetics, 2017
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