Recommendations for whole genome sequencing in diagnostics for rare diseases.

Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 May 16. https://doi.org/10.1038/s41431-022-01113-x

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.