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Page 1
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: gerull b. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Among authors: gerull b. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.
Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT; FORGE Canada Consortium; Childs SJ, Gerull B. Brodehl A, et al. Among authors: gerull b. Transl Res. 2019 Jun;208:15-29. doi: 10.1016/j.trsl.2019.02.004. Epub 2019 Feb 15. Transl Res. 2019. PMID: 30802431 Free PMC article.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S. Kühnisch J, et al. Among authors: gerull b. Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22. Clin Genet. 2019. PMID: 31568572
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C; Care4Rare Canada Consortium; Frosk P, Gerull B. Abdelfatah N, et al. Among authors: gerull b. JACC Basic Transl Sci. 2019 Apr 29;4(2):204-221. doi: 10.1016/j.jacbts.2018.12.001. eCollection 2019 Apr. JACC Basic Transl Sci. 2019. PMID: 31061923 Free PMC article.
Procainamide infusion in the evaluation of unexplained cardiac arrest: from the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER).
Somani R, Krahn AD, Healey JS, Chauhan VS, Birnie DH, Champagne J, Sanatani S, Angaran P, Gow RM, Chakrabarti S, Gerull B, Yee R, Skanes AC, Gula LJ, Leong-Sit P, Klein GJ, Gollob MH, Talajic M, Gardner M, Simpson CS. Somani R, et al. Among authors: gerull b. Heart Rhythm. 2014 Jun;11(6):1047-54. doi: 10.1016/j.hrthm.2014.03.022. Epub 2014 Mar 18. Heart Rhythm. 2014. PMID: 24657429
The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.
Krahn AD, Healey JS, Gerull B, Angaran P, Chakrabarti S, Sanatani S, Arbour L, Laksman ZW, Carroll SL, Seifer C, Green M, Roberts JD, Talajic M, Hamilton R, Gardner M. Krahn AD, et al. Among authors: gerull b. Can J Cardiol. 2016 Dec;32(12):1396-1401. doi: 10.1016/j.cjca.2016.04.004. Epub 2016 Apr 21. Can J Cardiol. 2016. PMID: 27474350
Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction Registry.
Herman AR, Cheung C, Gerull B, Simpson CS, Birnie DH, Klein GJ, Champagne J, Healey JS, Gibbs K, Talajic M, Gardner M, Bennett MT, Steinberg C, Janzen M, Gollob MH, Angaran P, Yee R, Leather R, Chakrabarti S, Sanatani S, Chauhan VS, Krahn AD. Herman AR, et al. Among authors: gerull b. Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003619. doi: 10.1161/CIRCEP.115.003619. Circ Arrhythm Electrophysiol. 2016. PMID: 26783233 Clinical Trial.
77 results