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/