Associated Papers
The RhoB p.S73F mutation leads to cerebral palsy through dysregulation of lipid homeostasis.
Wu X et al.
Embo Molecular Medicine, 2024
39080495 (PubMed )
Supplement: 44321_2024_113_MOESM3_ESM.pdf
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.
Saini N et al.
Plos Genetics, 2021
33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
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