Page 59 - Read Online
P. 59
Loong et al. J Transl Genet Genom 2023;7:27-49 https://dx.doi.org/10.20517/jtgg.2022.20 Page 53
137. de Vries J, Bull SJ, Doumbo O, et al. Ethical issues in human genomics research in developing countries. BMC Med Ethics
2011;12:5. DOI PubMed PMC
138. Girolami F, Frisso G, Benelli M, et al. Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical
applications. J Cardiovasc Med 2018;19:1-11. DOI PubMed PMC
139. Hamvas A, Madden KK, Nogee LM, et al. Informed consent for genetic research. Arch Pediatr Adolesc Med 2004;158:551-5. DOI
140. MOH. Updates to code of practice on the standards for the provision of clinical genetic/genomic testing services and clinical
laboratory genetic/genomic testing services. 2020. Available from: https://www.moh.gov.sg/docs/librariesprovider5/licensing-terms-
and-conditions/moh-cir-no-234_2020_16dec20_genetic-testing.pdf [Last accessed on 20 Feb 2023].
141. Mathaiyan J, Chandrasekaran A, Davis S. Ethics of genomic research. Perspect Clin Res 2013;4:100-4. DOI PubMed PMC
142. Wan Z, Hazel JW, Clayton EW, Vorobeychik Y, Kantarcioglu M, Malin BA. Sociotechnical safeguards for genomic data privacy.
Nat Rev Genet 2022;23:429-45. DOI
143. Godard B, Raeburn S, Pembrey M, Bobrow M, Farndon P, Aymé S. Genetic information and testing in insurance and employment:
technical, social and ethical issues. Eur J Hum Genet 2003;11 Suppl 2:S123-42. DOI PubMed
144. MOH. Moratorium on genetic testing and insurance ministry of health, Singapore. 2021. Available from: https://www.moh.gov.sg/
resources-statistics/moratorium-on-genetic-testing-and-insurance [Last accessed on 20 Feb 2023].
145. Li MX, Hwang PM. Structure and function of cardiac troponin C (TNNC1): implications for heart failure, cardiomyopathies, and
troponin modulating drugs. Gene 2015;571:153-66. DOI PubMed PMC
146. Letsas KP, Prappa E, Bazoukis G, et al. A novel variant of RyR2 gene in a family misdiagnosed as congenital long QT syndrome:
The importance of genetic testing. J Electrocardiol 2020;60:8-11. DOI PubMed
147. Kryshtal DO, Blackwell DJ, Egly CL, et al. RYR2 channel inhibition is the principal mechanism of flecainide action in CPVT. Circ
Res 2021;128:321-31. DOI PubMed PMC
148. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation 1999;99:529-33. DOI
PubMed
149. Tester DJ, Kopplin LJ, Will ML, Ackerman MJ. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort
of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm 2005;2:1099-105. DOI PubMed
150. Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, et al. The RYR2-encoded ryanodine receptor/calcium release channel in patients
diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long
QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009;54:2065-74. DOI PubMed PMC
151. Schrijver I, Liu W, Odom R, et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on
protein and clinical phenotypes. Am J Hum Genet 2002;71:223-37. DOI PubMed PMC
152. Youil R, Toner TJ, Bull E, et al. Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of
patients with Marfan syndrome using T4 endonuclease VII. Hum Mutat 2000;16:92-3. DOI
153. Söylen B, Singh KK, Abuzainin A, et al. Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan
syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. Clin Genet 2009;75:265-70. DOI PubMed
154. Baudhuin LM, Kotzer KE, Lagerstedt SA. Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients
with aortic events. Genet Med 2015;17:177-87. DOI PubMed