Associated Papers
Structural Insights into the Mechanisms Underlying Polyaminopathies.
Wu B et al.
International Journal of Molecular Sciences, 2024
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
VanSickle EA et al.
American Journal of Medical Genetics. Part A, 2021
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
Rajasekaran S et al.
Elife, 2021
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
Rodan LH et al.
American Journal of Medical Genetics. Part A, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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