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Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2025 Feb;27(2):101305. doi: 10.1016/j.gim.2024.101305. Epub 2024 Oct 24. Genet Med. 2025. PMID: 39489894 Free article.
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ, Abuzenadah AM, Cartwright A, Al-Shammari NS, Coyle RE, Eckert M, Al-Buhairan AM, Messenger SL, Budde U, Gürsel T, Ingerslev J, Peake IR, Goodeve AC. Hampshire DJ, et al. Among authors: cartwright a. Thromb Haemost. 2013 Aug;110(2):264-74. doi: 10.1160/TH13-02-0135. Epub 2013 May 23. Thromb Haemost. 2013. PMID: 23702511 Free PMC article.
Assessment of droplet digital polymerase chain reaction for measuring BCR-ABL1 in chronic myeloid leukaemia in an international interlaboratory study.
Scott S, Cartwright A, Francis S, Whitby L, Sanzone AP, Mulder A, Galimberti S, Dulucq S, Mauté C, Lauricella C, Salmon M, Rose S, Willoughby J, Boeckx N, Pallisgaard N, Maier J, Leibundgut EO, Zizkova H, Ling Goh L, Duong C, Tang WF, Ma E, Shivakumar Y, Beppu L, Bhagavatula P, Chantry A. Scott S, et al. Among authors: cartwright a. Br J Haematol. 2021 Jul;194(1):53-60. doi: 10.1111/bjh.17521. Epub 2021 Jun 10. Br J Haematol. 2021. PMID: 34114218 Free article.
355 results