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Genetic testing for inherited retinal degenerations: Triumphs and tribulations
dc.contributor.authorBranham, Kari
dc.contributor.authorSchlegel, Dana
dc.contributor.authorFahim, Abigail T.
dc.contributor.authorJayasundera, K. Thiran
dc.date.accessioned2020-10-01T23:28:52Z
dc.date.availableWITHHELD_12_MONTHS
dc.date.available2020-10-01T23:28:52Z
dc.date.issued2020-09
dc.identifier.citationBranham, Kari; Schlegel, Dana; Fahim, Abigail T.; Jayasundera, K. Thiran (2020). "Genetic testing for inherited retinal degenerations: Triumphs and tribulations." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184(3): 571-577.
dc.identifier.issn1552-4868
dc.identifier.issn1552-4876
dc.identifier.urihttps://hdl.handle.net/2027.42/162692
dc.description.abstractInherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of conditions. Great strides have been made toward identifying the genetic basis for these conditions over the last 30 years—more than 270 different genes involved in syndromic and nonsyndromic forms of retinal dystrophies have now been identified. The identification of these genes and the improvement of clinical laboratory techniques have led to the identification of the genetic basis of disease in 56–76% of patients with IRDs through next generation sequencing and copy number variant analysis. Genetic testing is an essential part of clinical care for patients affected with IRDs and is required to confirm the diagnosis, understand the inheritance of the condition, and determine eligibility for gene‐specific treatments or clinical trials. Despite the success achieved in determining the genetic cause of these conditions, several challenges remain, which must be considered when providing genetic testing and genetic counseling to patients. For this reason, an integrated team of ophthalmic and genetic clinicians who are familiar with these challenges is necessary to provide optimal comprehensive care to these patients.
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.othergenetic testing
dc.subject.otherretinitis pigmentosa
dc.subject.othergenetic counseling
dc.titleGenetic testing for inherited retinal degenerations: Triumphs and tribulations
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/162692/2/ajmgc31835.pdfen_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/162692/1/ajmgc31835_am.pdfen_US
dc.identifier.doi10.1002/ajmg.c.31835
dc.identifier.sourceAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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