Ira Deveson: Towards comprehensive genetic diagnosis of repeat expansion disorders

Evaluation of Triplet Repeat Primed PCR to Diagnose Fragile X Syndrome (Ann Lab Med)Подробнее

E14.1 Recent Advances in the Identification and Characterization of Expanded RepeatsПодробнее

Short Tandem Repeat Expansions are Under-Appreciated in Rare Disease DiagnosisПодробнее

Webinar 28: Repeat Expansion diseases assessment with WGSПодробнее

Using Long Read Sequencing to Solve Complex Genetic Disease - Dr. Ira DevesonПодробнее

Accelerating genomic diagnosis of diseaseПодробнее

Introduction to repeat expansion diseasesПодробнее

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Empowering NHS rapid diagnostic testing with long-read DNA sequencingПодробнее

Trinucleotide Repeat DisordersПодробнее

Repeat expansion disorders — how RNA may gum up the worksПодробнее

Trinucleotide Repeat DisordersПодробнее

Single test for over 50 genetic diseases will cut diagnosis from decades to daysПодробнее

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Long-Read Genome Sequencing for the Molecular Understanding of Neurodevelopmental DisordersПодробнее