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
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
In silico protein interaction screening uncovers DONSON's role in replication initiation.
Lim Y et al.
Science (new York, N.y.), 2023
37590370 (PubMed )
Supplement: NIHMS1946428-supplement-1.pdf
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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
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
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
Wang H et al.
Acta Neuropathologica Communications, 2018
30157964 (PubMed )
Supplement: 40478_2018_589_MOESM1_ESM.pdf
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ et al.
Nature Genetics, 2017
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