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Published Studies

CHAMP1 Publications & Studies

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.

Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ

Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene

Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype

CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair

Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13

CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review

Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression

Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report

The rare 13q33-q34 microdeletions: eight new patients and review of the literature

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

Dynamic feature of mitotic arrest deficient 2-like protein 2 (MAD2L2) and structural basis for its interaction with chromosome alignment-maintaining phosphoprotein (CAMP)

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Large-scale discovery of novel genetic causes of developmental disorders

CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment

CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy

Edinburgh CHAMP1 Project

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