The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. GibbsFritz J. Sedlazeck, James R. Lupski, Claudia M.B. Carvalho, Pengfei Liu

Pediatrics
Genetics & Metabolism

Research output: Contribution to journal › Article › peer-review

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

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Medicine & Life Sciences