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Defining an Ageing-Related Pathology, Disease or Syndrome: International Consensus Statement.
Short E, Adcock IM, Al-Sarireh B, Ager A, Ajjan R, Akbar N, Akeroyd MA, Alsaleh G, Al-Sharbatee G, Alavian K, Amoaku W, Andersen J, Antoniades C, Arends MJ, Astley S, Atan D, Attanoos R, Attems J, Bain S, Balaskas K, Balmus G, Bance M, Barber TM, Bardhan A, Barker K, Barnes P, Basatemur G, Bateman A, Bauer ME, Bellamy C, van Beek E, Bellantuono I, Benbow E, Bhandari S, Bhatnagar R, Bloom P, Bowdish D, Bowerman M, Burke M, Carare R, Carrington EV, Castillo-Quan JI, Clegg P, Cole J, Cota C, Chazot P, Chen C, Cheong Y, Christopher G, Church G, Clancy D, Cool P, Del Galdo F, Dalakoti M, Dasgupta S, Deane C, Dhasmana D, Dojcinov S, Di Prete M, Du H, Duggal NA, Ellmers T, Emanueli C, Emberton M, Erusalimsky JD, Feldmeyer L, Fleming A, Forbes K, Foster TC, Frasca D, Frayling I, Freedman D, Fülöp T, Ellison-Hughes G, Gazzard G, George C, Gil J, Glassock R, Goldin R, Green J, Guymer R, Haboubi H, Harries L, Hart S, Hartley D, Hasaballa S, Henein C, Helliwell M, Henderson E, Heer R, Holte K, Idris I, Isenburg D, Jylhävä J, Iqbal A, Jones SW, Kalaria R, Kanamarlapudi V, Kempf W, Kermack AJ, Kerns J, Koulman A, Khan AH, Kinross J, Klaucane K, Krishna Y, Gill HS, Lakatta E, Laconi E, La… See abstract for full author list ➔ Short E, et al. Among authors: frayling i. medRxiv [Preprint]. 2024 Sep 6:2024.09.02.24312951. doi: 10.1101/2024.09.02.24312951. medRxiv. 2024. Update in: Geroscience. 2024 Sep 21. doi: 10.1007/s11357-024-01315-9. PMID: 39281746 Free PMC article. Updated. Preprint.
Molecular pathology of Lynch syndrome.
Cerretelli G, Ager A, Arends MJ, Frayling IM. Cerretelli G, et al. J Pathol. 2020 Apr;250(5):518-531. doi: 10.1002/path.5422. J Pathol. 2020. PMID: 32141610 Review.
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER. Whitworth J, et al. JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. JAMA Oncol. 2016. PMID: 26659639 Review.
Lynch syndrome screening in gynaecological cancers: results of an international survey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results.
Ryan N, Wall J, Crosbie EJ, Arends M, Bosse T, Arif S, Faruqi A, Frayling I, Ganesan R, Hock YL, McMahon R, Manchanda R, McCluggage WG, Mukonoweshuro P, van Schalkwyk G, Side L, Smith JH, Tanchel B, Evans DG, Gilks CB, Singh N. Ryan N, et al. Among authors: frayling i. Histopathology. 2019 Dec;75(6):813-824. doi: 10.1111/his.13925. Epub 2019 Sep 6. Histopathology. 2019. PMID: 31310679
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: frayling im. Am J Hum Genet. 2024 Sep 26:S0002-9297(24)00337-9. doi: 10.1016/j.ajhg.2024.09.002. Online ahead of print. Am J Hum Genet. 2024. PMID: 39357517 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 article.
100 results