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dc.contributor.authorChinnery, Patrick
dc.date.accessioned2021-11-13T00:30:13Z
dc.date.available2021-11-13T00:30:13Z
dc.date.issued2021-11-03
dc.identifier.issn0959-8146
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/330620
dc.description.abstractI met my first patient with suspected mitochondrial disease in 1995 as a junior neurology trainee in Newcastle upon Tyne. At the time, mitochondrial disorders were thought to be exceptionally rare, with the first genetically defined causes reported only seven years earlier.1 2 Most genetic investigations were carried out in unregulated university laboratories located in a small number of locations worldwide, and referrals were mainly from tertiary centres after a protracted series of clinical opinions and investigations. Many clinicians had not even heard of mitochondrial diseases
dc.languageeng
dc.publisherBMJ
dc.rightsAll rights reserved
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserved
dc.subjectGenetic Testing
dc.subjectHealth Care Costs
dc.subjectHumans
dc.subjectMitochondrial Diseases
dc.subjectState Medicine
dc.subjectTime Factors
dc.subjectUnited Kingdom
dc.subjectWhole Genome Sequencing
dc.titleShortening the diagnostic odyssey-the impact of whole genome sequencing in the NHS.
dc.typeArticle
prism.publicationDate2021
prism.publicationNameBMJ
prism.startingPagen2683
prism.volume375
dc.identifier.doi10.17863/CAM.78064
rioxxterms.versionofrecord10.1136/bmj.n2683
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2021-11-03
dc.contributor.orcidChinnery, Patrick [0000-0002-7065-6617]
dc.identifier.eissn1756-1833
rioxxterms.typeJournal Article/Review
pubs.funder-project-idCambridge University Hospitals NHS Foundation Trust (CUH) (146281)
pubs.funder-project-idWellcome Trust (212219/Z/18/Z)
cam.issuedOnline2021-11-03
cam.orpheus.success2021-11-12 - Embargo set during processing via Fast-track
rioxxterms.freetoread.startdate2021-11-03


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