Associated Papers
CHAMP1 is an essential regulator for human myoblast fusion and muscle development.
Zhang H et al.
Nature Communications, 2026
CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.
Yoshizaki Y et al.
Scientific Reports, 2024
39738383 (PubMed )
Supplement: 41598_2024_83435_MOESM1_ESM.pdf
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Levy T et al.
Human Molecular Genetics, 2022
35271727 (PubMed )
Supplement: supplementary_tables_1-4_ddac018.xlsx › 1.Demographics__Genetics
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
Asakura Y et al.
Human Genome Variation, 2021
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
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2016
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