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Year Number of Results
2001 1
2007 1
2011 2
2016 2
2017 1
2018 1
2019 2
2020 5
2021 2
2022 2
2023 3
2024 7
2025 7

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30 results

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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.
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.
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW, Karimi K, Rastin C, Almanza Fuerte EP, Allan T, Russ-Hall SJ, Schneider AL, Stobo D, Lesca G, Symonds JD, Brunklaus A, Sadleir LG, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: stobo d. Epilepsia. 2025 Apr;66(4):e66-e72. doi: 10.1111/epi.18315. Epub 2025 Feb 11. Epilepsia. 2025. PMID: 39932319 Free PMC article.
A multisystem, cardio-renal investigation of post-COVID-19 illness.
Morrow AJ, Sykes R, McIntosh A, Kamdar A, Bagot C, Bayes HK, Blyth KG, Briscoe M, Bulluck H, Carrick D, Church C, Corcoran D, Findlay I, Gibson VB, Gillespie L, Grieve D, Hall Barrientos P, Ho A, Lang NN, Lennie V, Lowe DJ, Macfarlane PW, Mark PB, Mayne KJ, McConnachie A, McGeoch R, McGinley C, McKee C, Nordin S, Payne A, Rankin AJ, Robertson KE, Roditi G, Ryan N, Sattar N, Allwood-Spiers S, Stobo D, Touyz RM, Veldtman G, Watkins S, Weeden S, Weir RA, Welsh P, Wereski R; CISCO-19 Consortium; Mangion K, Berry C. Morrow AJ, et al. Among authors: stobo d. Nat Med. 2022 Jun;28(6):1303-1313. doi: 10.1038/s41591-022-01837-9. Epub 2022 May 23. Nat Med. 2022. PMID: 35606551 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.
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.
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.
30 results