REFERENCES

1. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewsk W, Gambin T, Akdemir ZHC, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton RV, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Bamshad MJ; Centers for Mendelian Genomics. The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet 2015;97:199-215.

2. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS, ClinGen. ClinGen - The Clinical Genome Resource. N Engl J Med 2015;372:2235-42.

3. Transforming Genetic Medicine Initiative (TGMI) online resource. GEMSTAR. Available from: http://www.thetgmi.org//gemstar/. [Last accessed on 24 Jun 2018].

4. Genomics England PanelApp online resource. Long QT syndrome (Version 1.5). Available from: https://panelapp.genomicsengland.co.uk/panels/76/. [Last accessed 24 Jun 2018].

5. Shah SR, Ki P. Long QT syndrome: a comprehensive review of the literature and current evidence. Curr Probl Cardiol 2018;18:30051-3.

6. Amin AS, Arthur AMW. Genetic screening in acquired long QT syndrome? Caution: proceed carefully. Eur Heart J 2016;37:1465-8.

7. Rohatgi RK, Sugrue A, Bos JM, Cannon BC, Asirvatham SJ, Moir C, Owen HJ, Bos KM, Kruisselbrink T, Ackerman MJ. Contemporary outcomes in patients with LQTS. J Am Coll Cardiol 2017;70:453-62.

8. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A Jr, Robinson JL, Benhorin J, Choi S. The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 1991;84:1136-44.

9. Fernández-Falgueras A, Sarquella-Brugada G, Brugada J, Brugada R, Campuzano O. Cardiac channelopathies and sudden death: recent clinical and genetic advances. Biology (Basel) 2017;6.pii:E7.

10. Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J 2016;37:1456-64.

11. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Heart Rhythm 2013;10:e85-108.

12. Giudicessi JR, Wilde AAM, Ackerman MJ. The genetic architecture of long QT syndrome: a critical reappraisal. Trends Cardiovasc Med 2018; doi: 10.1016/j.tcm.2018.03.003.

13. Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM. Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA 2016;315:47-57.

14. Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck KH, Hernandez-Madrid A, Nikolaou N, Norekvål TM, Spaulding C, Van Veldhuisen DJ. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Rev Esp Cardiol (Eng Ed) 2016;69:176.

15. Czosek RJ, Kaltman JR, Cassedy AE, Shah MJ, Vetter VL, Tanel RE, Wernovksy, G, Wray J, Marino BS. Quality of life of pediatric patients with long QT syndrome. Am J Cardiol 2016;117:605-10.

16. Giuffre RM, Gupta S, Crawford SG, Leung AK. Fears and anxiety in children with long-QT syndrome compared to children with asthma. J Natl Med Assoc 2008;100:420-4.

17. Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA. Mutant Caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-12.

18. Ye B, Tester DJ, Vatta M, Makielski JC, Ackerman MJ. Molecular and functional characterization of novel CAV3-encoded caveolin-3 mutations in congenital long QT syndrome. Heart Rhythm 2006;3:S1.

19. Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ. SCN4B-encoded sodium channel 4 subunit in congenital long-QT syndrome. Circulation 2007;116:134-42.

20. Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci USA 2007;104:20990-5.

21. Maltese PE, Orlova N, Krasikova E, Emelyanchik E, Cheremisina A, Kuscaeva A, Salmina A, Miotto R, Bonizzato A, Guerri G, Zuntini M, Nicoulina S, Bertelli M. Gene-targeted analysis of clinically diagnosed long QT Russian families. Int Heart J 2017;58:81-7.

22. Shimizu W. Clinical impact of genetic studies in lethal inherited cardiac arrhythmias. Circ J 2008;72:1926-36.

23. Angrist M, Chandrasekharan S, Heaney C, Cook-Deegan R. Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome. Genet Med 2010;12:S111-54.

24. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource. Am J Hum Genet 2017;100:895-906.

25. National human genome research institute (NHGRI) online resource. Available from: www.genome.gov/10002335/regulation-of-genetic-tests/. [Last accessed on 25 Jun 2018].

26. Okur V, Chung WK. The impact of hereditary cancer gene panels on clinical care and lessons learned. Cold Spring Harb Mol Case Stud 2017;3:a002154.

27. Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, McLeod MC, Jagsi R, Katz SJ. Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol 2017;35:2232-9.

28. Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am J Med Genet A 2015;167A:1747-57.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/