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Published Studies

1. Itoh G, Kanno S, Uchida KS, Chiba S, Sugino S, Watanabe K, et al. CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment. EMBO J. 2011;30(1):130-44. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3020106/

2. Study DDD. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519(7542):223-8.   https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5955210/

3. Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, et al. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am J Hum Genet. 2015;97(3):493-500. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564986/

4. Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, et al. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016;37(4):354-8. https://www.ncbi.nlm.nih.gov/pubmed/26751395

5. Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, et al. 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849844/

6. Okamoto N, Tsuchiya Y, Kuki I, Yamamoto T, Saitsu H, Kitagawa D, et al. Disturbed chromosome segregation and multipolar spindle formation in a patient with. Mol Genet Genomic Med. 2017;5(5):585-91 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606869/

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). 
Hara K, Taharazako S, Ikeda M, Fujita H, Mikami Y, Kikuchi S, Hishiki A, Yokoyama H, Ishikawa Y, Kanno SI, Tanaka K, Hashimoto H. J Biol Chem. 2017 Oct 27;292(43):17658-17667. doi: 10.1074/jbc.M117.804237

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

Tess Levy,  Bonnie Lerman,  Danielle Halpern,  Yitzchak Frank,  Christina Layton, Jessica Zweifach,  Paige M Siper,  Joseph D Buxbaum,  Alexander KolevzonAuthor Notes

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