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Rethink. Retest

25 July 2023

Dr Anna Hackett Staff Specialist, Hunter Genetics, Waratah Campus

Open access logo Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, et al. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 2021 Mar 17;13(1):40. PubMed PMID: 33726816. PMCID: PMC7968334. Epub 20210317. eng.

 

Open access logo Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, et al. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study. HGG Adv. 2022 Jul 14;3(3):100108. PubMed PMID: 35599849. PMCID: PMC9117924. Epub 20220418. eng.

Open access logo Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021 Nov 11;385(20):1868-80. PubMed PMID: 34758253. PMCID: PMC7613219. eng.

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