Associated Papers
The DNA replication machinery transmits dual signals to prevent unscheduled licensing and execution of centrosome duplication.
Matsuhashi K et al.
Nature Communications, 2025
40921755 (PubMed )
Supplement: 41467_2025_63002_MOESM1_ESM.pdf
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
The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.
Vaseghi H et al.
Journal of Clinical Laboratory Analysis, 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
The Replisome Mediates A-NHEJ Repair of Telomeres Lacking POT1-TPP1 Independently of MRN Function.
Rai R et al.
Cell Reports, 2019
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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