Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options
Sign Up to like & getrecommendations! Published in 2020 at "Acta Ophthalmologica"
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
Diagnosis of inherited bleeding disorders in the genomic era
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DOI: 10.1111/bjh.14796
Abstract: Inherited bleeding disorders affect between 1 in 1000 individuals for the most common disorder, von Willebrand Disease, to only 8 reported cases worldwide of alpha‐2‐antiplasmin deficiency. Those with an identifiable abnormality can be divided into… read more here.
Keywords: diagnosis inherited; inherited bleeding; bleeding disorders; disorders genomic ... See more keywords
Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-01-852350
Abstract: The molecular causes of many inherited platelet disorders are being unraveled. Next-generation sequencing facilitates diagnosis in 30% to 50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context… read more here.
Keywords: diagnosis inherited; simplifying diagnosis; inherited platelet; platelet disorders ... See more keywords