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Implementing Multifactorial Risk Assessment with Polygenic Risk Scores for Personalized Breast Cancer Screening in the Population Setting: Challenges and Opportunities.
Walker MJ, Blackmore KM, Chang A, Lambert-Côté L, Turgeon A, Antoniou AC, Bell KA, Broeders MJM, Brooks JD, Carver T, Chiquette J, Després P, Easton DF, Eisen A, Eloy L, Evans DG, Fienberg S, Joly Y, Kim RH, Kim SJ, Knoppers BM, Lofters AK, Nabi H, Paquette JS, Pashayan N, Sheppard AJ, Stockley TL, Dorval M, Simard J, Chiarelli AM. Walker MJ, et al. Among authors: stockley tl. Cancers (Basel). 2024 May 31;16(11):2116. doi: 10.3390/cancers16112116. Cancers (Basel). 2024. PMID: 38893236 Free PMC article.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
Hume S, Nelson TN, Speevak M, McCready E, Agatep R, Feilotter H, Parboosingh J, Stavropoulos DJ, Taylor S, Stockley TL; Canadian College of Medical Geneticists (CCMG). Hume S, et al. Among authors: stockley tl. J Med Genet. 2019 Dec;56(12):792-800. doi: 10.1136/jmedgenet-2019-106152. Epub 2019 Jul 12. J Med Genet. 2019. PMID: 31300550 Free PMC article.
CDKN1C mutations and genital anomalies.
Welsh HI, Stockley TL, Parkinson N, Ardinger HH. Welsh HI, et al. Among authors: stockley tl. Am J Med Genet A. 2012 Jan;158A(1):265. doi: 10.1002/ajmg.a.34388. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140035 No abstract available.
Danon Disease Due to a Novel LAMP2 Microduplication.
Lines MA, Hewson S, Halliday W, Sabatini PJ, Stockley T, Dipchand AI, Bowdin S, Siriwardena K. Lines MA, et al. JIMD Rep. 2014;14:11-6. doi: 10.1007/8904_2013_277. Epub 2013 Nov 13. JIMD Rep. 2014. PMID: 24222494 Free PMC article.
Optimal duration of imatinib treatment/deep molecular response for treatment-free remission after imatinib discontinuation from a Canadian tyrosine kinase inhibitor discontinuation trial.
Kim DDH, Novitzky-Basso I, Kim TS, Atenafu EG, Forrest D, Savoie L, Bence-Bruckler I, Keating MM, Busque L, Delage R, Xenocostas A, Liew E, Paulson K, Stockley T, Laneuville P, Lipton JH, Kamel-Reid S, Leber B. Kim DDH, et al. Br J Haematol. 2021 May;193(4):779-791. doi: 10.1111/bjh.17447. Epub 2021 Apr 20. Br J Haematol. 2021. PMID: 33876423 Clinical Trial.
The 17-gene stemness score associates with relapse risk and long-term outcomes following allogeneic haematopoietic cell transplantation in acute myeloid leukaemia.
Kim DDH, Novitzky Basso I, Kim TS, Yi SY, Kim KH, Murphy T, Chan S, Minden M, Pasic I, Lam W, Law A, Michelis FV, Gerbitz A, Viswabandya A, Lipton J, Kumar R, Ng SWK, Stockley T, Zhang T, King I, Mattsson J, Wang JCY. Kim DDH, et al. EJHaem. 2022 May 23;3(3):873-884. doi: 10.1002/jha2.466. eCollection 2022 Aug. EJHaem. 2022. PMID: 36051057 Free PMC article.
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Marshall CR, et al. Among authors: stockley tl. BMC Genomics. 2015;16 Suppl 1(Suppl 1):S12. doi: 10.1186/1471-2164-16-S1-S12. Epub 2015 Jan 15. BMC Genomics. 2015. PMID: 25923536 Free PMC article.
123 results