Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Erin Zampaglione(Massachusetts Eye and Ear Infirmary), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), J. Alex Mazzone(Massachusetts Eye and Ear Infirmary), Jason Comander(Massachusetts Eye and Ear Infirmary), Dana Schlegel(University of Michigan), Benyam Kinde(Massachusetts Eye and Ear Infirmary), Daniel Navarro-Gomez, Matthew Maher(James J. Peters VA Medical Center), Eric A. Pierce(Broad Institute), Caitlin Finn(Massachusetts Eye and Ear Infirmary), Sherwin Nassiri(Rosalind Franklin University of Medicine and Science), Emily Place(MACOM (United States)), Farzad Jamshidi(Massachusetts Eye and Ear Infirmary)
Genetics in Medicine
February 9, 2020
Cited by 115


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