Associated Papers
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Levy T et al.
Human Genetics, 2023
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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