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Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. Among authors: walker s. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free PMC article.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Nolan J, Buchanan J, Taylor J, Almeida J, Bedenham T, Blair E, Broadgate S, Butler S, Cazeaux A, Craft J, Cranston T, Crawford G, Forrest J, Gabriel J, George E, Gillen D, Haeger A, Hastings Ward J, Hawkes L, Hodgkiss C, Hoffman J, Jones A, Karpe F, Kasperaviciute D, Kovacs E, Leigh S, Limb E, Lloyd-Jani A, Lopez J, Lucassen A, McFarlane C, O'Rourke AW, Pond E, Sherman C, Stewart H, Thomas E, Thomas S, Thomas T, Thomson K, Wakelin H, Walker S, Watson M, Williams E, Ormondroyd E. Nolan J, et al. Among authors: walker s. Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19. Genet Med. 2024. PMID: 38131308 Free article.
Costs of Overly Broad Recalls.
Ackerley N, Berlind A, Black M, Kho K, McLaughlin C, Sassi A, Sertkaya A, Walker S. Ackerley N, et al. Among authors: walker s. J Food Prot. 2025 Jan 6:100450. doi: 10.1016/j.jfp.2025.100450. Online ahead of print. J Food Prot. 2025. PMID: 39778681 Free article.
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
Haque B, Cheerie D, Pan A, Curtis M, Nalpathamkalam T, Nguyen J, Salhab C, Thiruvahindrapuram B, Zhang J, Couse M, Hartley T, Morrow MM, Price EM, Walker S, Malkin D, Roth FP, Costain G. Haque B, et al. Among authors: walker s. PLoS Genet. 2025 Jan 6;21(1):e1011540. doi: 10.1371/journal.pgen.1011540. Online ahead of print. PLoS Genet. 2025. PMID: 39761285 Free article.
5,531 results