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Published Studies

1. CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment. EMBO J. 2011;30(1):130-44. – View Study Here

2. Study DDD. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519(7542):223-8 – View Study Here

3. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am J Hum Genet. 2015;97(3):493-500 – View Study Here

4. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016;37(4):354-8 – View Study Here

5. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb Mol Case Stud. 2016;2(1):a000661 – View Study Here

6. Disturbed chromosome segregation and multipolar spindle formation in a patient with. Mol Genet Genomic Med. 2017;5(5):585-91 – View Study Here

7. CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy – Download Study Here

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

9. Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression – Download Study Here

10. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1 – Download Study Here

11. CHAMP1 disorder is associated with a complex neurobehavioral phenotype –  Download Study Here

12. Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype – Download Study Here

13. CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance – View Study Here


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