Associated Papers
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
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
Seaby EG et al.
Healthcare (basel, Switzerland), 2023
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Levy T et al.
Human Genetics, 2023
CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature.
Abi Raad S et al.
Genes, 2023
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
Asakura Y et al.
Human Genome Variation, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
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
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M et al.
American Journal of Human Genetics, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014