Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube, Wai-Man Chan, Brenda J Barry, Raehoon Jeong, Elisabeth Rothman, Mary C Whitman, Sarah MacKinnon, Cristina Rivera-Quiles, Brandon M Pratt, Teresa Easterbrooks, Fiona M Mensching, Silvio Alessandro Di Gioia, Lynn Pais, Eleina M England, Teresa de Berardinis, Adriano Magli, Feray Koc, Kazuhide Asakawa, Koichi Kawakami, Anne O'Donnell-Luria, David G Hunter, Caroline D Robson, Martha L Bulyk, Elizabeth C Engle
چکیده
To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Through exome and genome sequencing of a genetically unsolved human oCCDD cohort, we previously reported the identification of variants in…
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DOI: 10.1167/iovs.66.3.62