A germline chromothripsis event stably segregating in 11 individuals through three generations

Bertelsen, B.; Nazaryan-Petersen, L.; Sun, W.; Mehrjouy, M.M.; Xie, G.C.; Chen, W.; ... ; Tumer, Z. (2016)

Article / Letter to editor

• ataxia-telangiectasia and Rad3-related protein kinase
• chromothripsis
• nomenclature
• single event
• stable segregation

• All authors: Bertelsen, B.; Nazaryan-Petersen, L.; Sun, W.; Mehrjouy, M.M.; Xie, G.C.; Chen, W.; Hjermind, L.E.; Taschner, P.E.M.; Tumer, Z.
• Date: 2016-05-31
• Journal: Genetics in Medicine
• Volume: 18
• Issue: 5
• Pages: 494 - 500
• DOI: doi:10.1038/gim.2015.112