Lessons from the 2019 GenQA preimplantation genetic testing external quality assessments for aneuploidies and structural chromosomal abnormalities. [POSTER]

M Sales, F Khawaja, R Hastings, A Birick, D Kubicek, E Coonen, L Rodrigo Vivo, S Knebel, ZC Deans. 2022 Preimplantation Genetic Diagnosis International Society (PGDIS), Berlin, Germany.

Novel issues identified through twelve years of external quality assessment of PGT for monogenic disorders. [POSTER]

F Khawaja, A Biricik, M De Rycke, M Hornak, C Moutou, J Traeger-Synodinos, P Renwick, ZC Deans. 2022 Preimplnatation Genetic Diagnosis International Society, Berlin, Germany.

Recommendations for reporting results of diagnostic genomic testing.

Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovercic L, Ounap K, Tabiner M, Treacy R and van Asperen CJ. Recommendations for reporting results of diagnostic genomic testing. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01091-0

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group, Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. PMID: 35182509; PMCID: PMC8850201.

Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations

Ptasinska A, Whalley C, Bosworth A, Poxon C, Bryer C, Machin N, Grippon S, Wise EL, Armson B, Howson ELA, Goring A, Snell G, Forster J, Mattocks C, Frampton S, Anderson R, Cleary D, Parker J, Boukas K, Graham N, Cellura D, Garratt E, Skilton R, Sheldon H, Collins A, Ahmad N, Friar S, Burns D, Williams T, Godfrey KM, Deans Z, Douglas A, Hill S, Kidd M, Porter D, Kidd SP, Cortes NJ, Fowler V, Williams T, Richter A, Beggs AD. Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations. Clin Microbiol Infect. 2021 Sep;27(9):1348.e1-1348.e7. doi: 10.1016/j.cmi.2021.04.008. Epub 2021 Apr 24. PMID: 33901668; PMCID: PMC8064897.