Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options
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DOI: 10.1111/aos.14479
Abstract: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on… read more here.
Keywords: diagnosis inherited; genomic diagnosis; comprehensive genomic; diagnosis ... See more keywords
Dysmorphology in the Era of Genomic Diagnosis
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm10010018
Abstract: Genetic and genomic testing technologies have expanded beyond levels of diagnostic capability that were unimaginable even a few years ago. While this has significantly benefited clinicians in their care of patients and families, it has… read more here.
Keywords: genomic diagnosis; era genomic; dysmorphology era;