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Page 1
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM. Symonds JD, et al. Among authors: stobo d. Epilepsia. 2024 Nov;65(11):3303-3323. doi: 10.1111/epi.18115. Epub 2024 Sep 30. Epilepsia. 2024. PMID: 39348199
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.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
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.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Radiograph accelerated detection and identification of cancer in the lung (RADICAL): a mixed methods study to assess the clinical effectiveness and acceptability of Qure.ai artificial intelligence software to prioritise chest X-ray (CXR) interpretation.
Duncan SF, McConnachie A, Blackwood J, Stobo DB, Maclay JD, Wu O, Germeni E, Robert D, Bilgili B, Kumar S, Hall M, Lowe DJ. Duncan SF, et al. Among authors: stobo db. BMJ Open. 2024 Sep 20;14(9):e081062. doi: 10.1136/bmjopen-2023-081062. BMJ Open. 2024. PMID: 39306349 Free PMC article.
Clinical decision aids and computed tomography coronary angiography in patients with suspected acute coronary syndrome.
Wang KL, Taggart C, McDermott M, O'Brien R, Oatey K, Keating L, Storey RF, Felmeden D, Curzen N, Kardos A, Roobottom C, Smith J, Goodacre S, Newby DE, Gray AJ; RAPID-CTCA Investigators. Wang KL, et al. Emerg Med J. 2024 Jul 22;41(8):488-494. doi: 10.1136/emermed-2024-213904. Emerg Med J. 2024. PMID: 38857986 Free article. Clinical Trial.
Socioeconomic deprivation and illness trajectory in the Scottish population after COVID-19 hospitalization.
Morrow AJ, Sykes R, Saleh M, Zahra B, MacIntosh A, Kamdar A, Bagot C, Bayes HK, Blyth KG, Bulluck H, Carrick D, Church C, Corcoran D, Findlay I, Gibson VB, Gillespie L, Grieve D, Barrientos PH, Ho A, Lang NN, Lowe DJ, Lennie V, Macfarlane PW, Mayne KJ, Mark PB, McConnachie A, McGeoch R, Nordin S, Payne A, Rankin AJ, Robertson K, Ryan N, Roditi G, Sattar N, Stobo D, Allwood-Spiers S, Touyz RM, Veldtman G, Weeden S, Weir R, Watkins S, Welsh P, Mangion K, Berry C. Morrow AJ, et al. Among authors: stobo d. Commun Med (Lond). 2024 Feb 28;4(1):32. doi: 10.1038/s43856-024-00455-5. Commun Med (Lond). 2024. PMID: 38418616 Free PMC article.
Invasive Endotyping in Patients With Angina and No Obstructive Coronary Artery Disease: A Randomized Controlled Trial.
Sidik NP, Stanley B, Sykes R, Morrow AJ, Bradley CP, McDermott M, Ford TJ, Roditi G, Hargreaves A, Stobo D, Adams J, Byrne J, Mahrous A, Young R, Carrick D, McGeoch R, Corcoran D, Lang NN, Heggie R, Wu O, McEntegart MB, McConnachie A, Berry C. Sidik NP, et al. Among authors: stobo d. Circulation. 2024 Jan 2;149(1):7-23. doi: 10.1161/CIRCULATIONAHA.123.064751. Epub 2023 Oct 5. Circulation. 2024. PMID: 37795617 Clinical Trial.
Post-COVID-19 illness and associations with sex and gender.
Mangion K, Morrow AJ, Sykes R, Kamdar A, Bagot C, Bruce G, Connelly P, Delles C, Gibson VB, Gillespie L, Barrientos PH, Lennie V, Roditi G, Sattar N, Stobo D, Allwood-Spiers S, McConnachie A, Berry C; CISCO-19 investigators. Mangion K, et al. Among authors: stobo d. BMC Cardiovasc Disord. 2023 Aug 8;23(1):389. doi: 10.1186/s12872-023-03412-7. BMC Cardiovasc Disord. 2023. PMID: 37553628 Free PMC article.
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