Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
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| Title: | Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. |
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| Authors: | Cope, Heidi1 (AUTHOR), Barseghyan, Hayk2,3,4 (AUTHOR), Bhattacharya, Surajit2 (AUTHOR), Fu, Yulong2 (AUTHOR), Hoppman, Nicole5 (AUTHOR), Marcou, Cherisse5 (AUTHOR), Walley, Nicole1 (AUTHOR), Rehder, Catherine6 (AUTHOR), Deak, Kristen6 (AUTHOR), Alkelai, Anna7 (AUTHOR), Vilain, Eric2,3 (AUTHOR), Shashi, Vandana1 (AUTHOR) vandana.shashi@duke.edu, Acosta, Maria T (AUTHOR), Adam, Margaret (AUTHOR), Adams, David R (AUTHOR), Agrawal, Pankaj B (AUTHOR), Alejandro, Mercedes E (AUTHOR), Alvey, Justin (AUTHOR), Amendola, Laura (AUTHOR), Andrews, Ashley (AUTHOR) |
| Source: | Molecular Genetics & Genomic Medicine. Jul2021, Vol. 9 Issue 7, p1-10. 10p. |
| Database: | Academic Search Ultimate |
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