Associated Papers
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Garrity M et al.
Cold Spring Harbor Molecular Case Studies, 2021
First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review.
Dong Y et al.
Experimental and Therapeutic Medicine, 2021
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Isidor B et al.
Human Mutation, 2016
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