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Article

The Long Journey from Diagnosis to Therapy.

Annual review of genomics and human genetics - 31 Aug 2020

Davies Kay E

Abstract excerpt

I was honored to be asked by the Editorial Committee of the Annual Review of Genomics and Genetics to write an autobiographical account of my life in science and in genetics in particular. The field has moved from mapping Mendelian disorders 40 years ago to the delivery of effective therapies for some monogenic disorders today. My 40-year journey from diagnosis to therapy for Duchenne muscular dystrophy has...

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PMID: 32119789
DOI: 10.1146/annurev-genom-112019-083518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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