首页> Fertility and sterility> Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy platform.

Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy platform.

导出 LinkOut

翻译打印收藏纠错

第一作者： Amanda,Iturriaga

第一单位： Juno Genetics-US, Genetic Lab, Basking Ridge, New Jersey.

作者： Amanda,Iturriaga ^[1] ; Emily,Mounts ^[1] ; Ludovica,Picchetta ^[2] ; Cara,Vega ^[1] ; Francesca,Mulas ^[2] ; Christian Simon,Ottolini ^[3] ; Christine,Whitehead ^[4] ; Xin,Tao ^[1] ; Yiping,Zhan ^[1] ; Nicole,Loia ^[1] ; Vaidehi,Jobanputra ^[5] ; Antonio,Capalbo ^[6] ; Chaim,Jalas ^[1]

作者单位： Juno Genetics-US, Genetic Lab, Basking Ridge, New Jersey. ^[1] Juno Genetics-Italy, Reproductive Genetics, Rome, Italy. ^[2] Juno Genetics-Italy, Reproductive Genetics, Rome, Italy; Department of Maternal and Fetal Medicine, University College of London Institute for Women's Health, University College London, London, United Kingdom. ^[3] IVIRMA, Clinical Research, Basking Ridge, New Jersey. ^[4] Juno Genetics-US, Genetic Lab, Basking Ridge, New Jersey; Columbia University Irving Medical Center, New York, New York. ^[5] Juno Genetics-Italy, Reproductive Genetics, Rome, Italy; Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy; Department of Psychological Health and Territorial Sciences, School of Medicine and Health Sciences, "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy. Electronic address: antonio.capalbo@junogenetics.com. ^[6]

关键词 Preimplantation genetic testing copy number variant genetic counseling microdeletion microduplication