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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. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, 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, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
Association of Renin-Angiotensin-Aldosterone System Inhibitors With Clinical Outcomes, Hemodynamics, and Myocardial Remodeling Among Patients With Advanced Heart Failure on Left Ventricular Assist Device Support.
Gallone G, Ibero J, Morley-Smith A, Monteagudo Vela M, Fiorelli F, Konicoff M, Edwards G, Raj B, Shanmuganathan M, Pidello S, Frea S, De Ferrari GM, Panoulas V, Stock U, Bowles C, Dunning J, Riesgo Gil F. Gallone G, et al. Among authors: bowles c. J Am Heart Assoc. 2024 May 7;13(9):e032617. doi: 10.1161/JAHA.123.032617. Epub 2024 Apr 30. J Am Heart Assoc. 2024. PMID: 38686903 Free PMC article.
British societies guideline on the management of emergencies in implantable left ventricular assist device recipients in transplant centres.
Akhtar W, Baston VR, Berman M, Bhagra S, Chue C, Deakin CD, Dalzell JR, Dunning J, Dunning J, Gardner RS, Kiff K, Kore S, Lim S, MacGowan G, Naldrett I, Ostermann M, Pinto S, Pettit S, Gil FR, Rosenberg A, Rubino A, Sayeed R, Sequeira J, Swanson N, Tsui S, Walker C, Webb S, Woods A, Ventkateswaran R, Bowles CT. Akhtar W, et al. Among authors: bowles ct. Intensive Care Med. 2024 Apr;50(4):493-501. doi: 10.1007/s00134-024-07382-y. Epub 2024 Mar 25. Intensive Care Med. 2024. PMID: 38526578 Free PMC article.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C. Allen S, et al. Among authors: bowles c. J Med Genet. 2024 Mar 21;61(4):305-312. doi: 10.1136/jmg-2023-109645. J Med Genet. 2024. PMID: 38154813 Free PMC article.
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