-
1
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, et al; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565-574.
-
(2013)
Genet Med.
, vol.15
, Issue.7
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
2
-
-
84881347061
-
Incidental findings in clinical genomics: A clarification
-
American College of Medical Genetics and Genomics. Incidental findings in clinical genomics: a clarification. Genet Med. 2013;15(8):664-666.
-
(2013)
Genet Med.
, vol.15
, Issue.8
, pp. 664-666
-
-
-
3
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green RC, Berg JS, Berry GT, et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012;14(4):405-410.
-
(2012)
Genet Med.
, vol.14
, Issue.4
, pp. 405-410
-
-
Green, R.C.1
Berg, J.S.2
Berry, G.T.3
-
4
-
-
84859566974
-
Managing incidental findings and research results in genomic research involving biobanks and archived data sets
-
Wolf SM, Crock BN, Van Ness B, et al. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med. 2012;14(4):361-384.
-
(2012)
Genet Med.
, vol.14
, Issue.4
, pp. 361-384
-
-
Wolf, S.M.1
Crock, B.N.2
Van Ness, B.3
-
5
-
-
84859595869
-
The legal risks of returning results of genomics research
-
Clayton EW, McGuire AL. The legal risks of returning results of genomics research. Genet Med. 2012;14(4):473-477.
-
(2012)
Genet Med.
, vol.14
, Issue.4
, pp. 473-477
-
-
Clayton, E.W.1
McGuire, A.L.2
-
6
-
-
84902271056
-
Return of genomic results to research participants: The floor, the ceiling, and the choices in between
-
Jarvik GP, Amendola LM, Berg JS, et al; eMERGE Act-ROR Committee and CERC Committee; CSER Act-RORWorking Group. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014;94(6):818-826.
-
(2014)
Am J Hum Genet.
, vol.94
, Issue.6
, pp. 818-826
-
-
Jarvik, G.P.1
Amendola, L.M.2
Berg, J.S.3
-
7
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
-
Amendola LM, Dorschner MO, Robertson PD, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015;25(3):305-315.
-
(2015)
Genome Res.
, vol.25
, Issue.3
, pp. 305-315
-
-
Amendola, L.M.1
Dorschner, M.O.2
Robertson, P.D.3
-
8
-
-
84905912748
-
Pathogenic variants for mendelian and complex traits in exomes of 6,517 european and african americans: Implications for the return of incidental results
-
Tabor HK, Auer PL, Jamal SM, et al; NHLBI Exome Sequencing Project. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet. 2014;95(2):183-193.
-
(2014)
Am J Hum Genet.
, vol.95
, Issue.2
, pp. 183-193
-
-
Tabor, H.K.1
Auer, P.L.2
Jamal, S.M.3
-
9
-
-
84890479944
-
Electronic health records-driven phenotyping: Challenges, recent advances, and perspectives
-
Pathak J, Kho AN, Denny JC. Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. J AmMed Inform Assoc. 2013;20(e2):e206-e211.
-
(2013)
J AmMed Inform Assoc.
, vol.20
, Issue.E2
, pp. e206-e211
-
-
Pathak, J.1
Kho, A.N.2
Denny, J.C.3
-
10
-
-
84881328205
-
Validation of electronic medical record-based phenotyping algorithms: Results and lessons learned from the eMERGE network
-
Newton KM, Peissig PL, Kho AN, et al. Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. J AmMed Inform Assoc. 2013;20(e1):e147-e154.
-
(2013)
J AmMed Inform Assoc.
, vol.20
, Issue.E1
, pp. e147-e154
-
-
Newton, K.M.1
Peissig, P.L.2
Kho, A.N.3
-
11
-
-
84872022133
-
Chapter 13: Mining electronic health records in the genomics era
-
Denny JC. Chapter 13: Mining electronic health records in the genomics era. PLoS Comput Biol. 2012;8(12):e1002823.
-
(2012)
PLoS Comput Biol.
, vol.8
, Issue.12
, pp. e1002823
-
-
Denny, J.C.1
-
12
-
-
84921648422
-
Design and anticipated outcomes of the eMERGE-PGx project: A multicenter pilot for preemptive pharmacogenomics in electronic health record systems
-
Rasmussen-Torvik LJ, Stallings SC, Gordon AS, et al. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014;96(4): 482-489.
-
(2014)
Clin Pharmacol Ther.
, vol.96
, Issue.4
, pp. 482-489
-
-
Rasmussen-Torvik, L.J.1
Stallings, S.C.2
Gordon, A.S.3
-
13
-
-
84880078317
-
Impact of genetics on the clinical management of channelopathies
-
Schwartz PJ, Ackerman MJ, George AL Jr, Wilde AAM. Impact of genetics on the clinical management of channelopathies. J AmColl Cardiol. 2013;62(3):169-180.
-
(2013)
J AmColl Cardiol.
, vol.62
, Issue.3
, pp. 169-180
-
-
Schwartz, P.J.1
Ackerman, M.J.2
George, A.L.3
Wilde, A.A.M.4
-
14
-
-
84938216839
-
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE network
-
Crosslin DR, Robertson PD, Carrell DS, et al. Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network. Genome Med. 2015;7(1):67.
-
(2015)
Genome Med.
, vol.7
, Issue.1
, pp. 67
-
-
Crosslin, D.R.1
Robertson, P.D.2
Carrell, D.S.3
-
15
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491-498.
-
(2011)
Nat Genet.
, vol.43
, Issue.5
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
-
16
-
-
84891809093
-
Clin var: Public archive of relationships among sequence variation and human phenotype
-
Database issue
-
Landrum MJ, Lee JM, Riley GR, et al. Clin Var: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(Database issue):D980-D985.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
-
17
-
-
3042802307
-
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel
-
Wang Q, Chen S, Chen Q, et al. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet. 2004;41(5):e66.
-
(2004)
J Med Genet.
, vol.41
, Issue.5
, pp. e66
-
-
Wang, Q.1
Chen, S.2
Chen, Q.3
-
18
-
-
20844448008
-
R1193Q of SCN5A, a brugada and long QT mutation, is a common polymorphism in han Chinese
-
Hwang HW, Chen JJ, Lin YJ, et al. R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet. 2005;42(2):e7.
-
(2005)
J Med Genet.
, vol.42
, Issue.2
, pp. e7
-
-
Hwang, H.W.1
Chen, J.J.2
Lin, Y.J.3
-
19
-
-
0026759352
-
The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome
-
Vincent GM, Timothy KW, Leppert M, Keating M. The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 1992;327(12):846-852.
-
(1992)
N Engl J Med.
, vol.327
, Issue.12
, pp. 846-852
-
-
Vincent, G.M.1
Timothy, K.W.2
Leppert, M.3
Keating, M.4
-
21
-
-
84882276844
-
Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs?
-
Earle N, Crawford J, Smith W, et al. Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs? Heart Rhythm. 2013;10(2):233-238.
-
(2013)
Heart Rhythm.
, vol.10
, Issue.2
, pp. 233-238
-
-
Earle, N.1
Crawford, J.2
Smith, W.3
-
22
-
-
70449367296
-
Prevalence of the congenital long-QT syndrome
-
Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009;120(18):1761-1767.
-
(2009)
Circulation
, vol.120
, Issue.18
, pp. 1761-1767
-
-
Schwartz, P.J.1
Stramba-Badiale, M.2
Crotti, L.3
-
23
-
-
33748058449
-
Cost-effectiveness of neonatal ECG screening for the long QT syndrome
-
Quaglini S, Rognoni C, Spazzolini C, Priori SG, Mannarino S, Schwartz PJ. Cost-effectiveness of neonatal ECG screening for the long QT syndrome. Eur Heart J. 2006;27(15):1824-1832.
-
(2006)
Eur Heart J.
, vol.27
, Issue.15
, pp. 1824-1832
-
-
Quaglini, S.1
Rognoni, C.2
Spazzolini, C.3
Priori, S.G.4
Mannarino, S.5
Schwartz, P.J.6
-
24
-
-
66949112218
-
Prevalence of a brugada pattern electrocardiogram in an urban population in the United States
-
Patel SS, Anees S, Ferrick KJ. Prevalence of a Brugada pattern electrocardiogram in an urban population in the United States. Pacing Clin Electrophysiol. 2009;32(6):704-708.
-
(2009)
Pacing Clin Electrophysiol
, vol.32
, Issue.6
, pp. 704-708
-
-
Patel, S.S.1
Anees, S.2
Ferrick, K.J.3
-
25
-
-
84884506830
-
Interpreting secondary cardiac disease variants in an exome cohort
-
Ng D, Johnston JJ, Teer JK, et al; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013;6(4):337-346.
-
(2013)
Circ Cardiovasc Genet.
, vol.6
, Issue.4
, pp. 337-346
-
-
Ng, D.1
Johnston, J.J.2
Teer, J.K.3
-
26
-
-
84878572897
-
Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the finnish population
-
Lahtinen AM, Havulinna AS, Noseworthy PA, et al. Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population. Ann Med. 2013;45(4):328-335.
-
(2013)
Ann Med.
, vol.45
, Issue.4
, pp. 328-335
-
-
Lahtinen, A.M.1
Havulinna, A.S.2
Noseworthy, P.A.3
-
27
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
-
Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
-
(2015)
Genet Med.
, vol.17
, Issue.5
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
-
28
-
-
84930526399
-
ClinGen: The clinical genome resource
-
Rehm HL, Berg JS, Brooks LD, et al; ClinGen. ClinGen: the Clinical Genome Resource. N Engl J Med. 2015;372(23):2235-2242.
-
(2015)
N Engl J Med.
, vol.372
, Issue.23
, pp. 2235-2242
-
-
Rehm, H.L.1
Berg, J.S.2
Brooks, L.D.3
-
29
-
-
84875932002
-
New approaches to molecular diagnosis
-
Korf BR, Rehm HL. New approaches to molecular diagnosis. JAMA. 2013;309(14):1511-1521.
-
(2013)
JAMA
, vol.309
, Issue.14
, pp. 1511-1521
-
-
Korf, B.R.1
Rehm, H.L.2
-
30
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508 (7497):469-476.
-
(2014)
Nature
, vol.508
, Issue.7497
, pp. 469-476
-
-
MacArthur, D.G.1
Manolio, T.A.2
Dimmock, D.P.3
-
31
-
-
0345690174
-
Ethnic differences in cardiac potassium channel variants: Implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
-
Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003;78(12):1479-1487.
-
(2003)
Mayo Clin Proc.
, vol.78
, Issue.12
, pp. 1479-1487
-
-
Ackerman, M.J.1
Tester, D.J.2
Jones, G.S.3
Will, M.L.4
Burrow, C.R.5
Curran, M.E.6
-
32
-
-
7744243863
-
Spectrum and prevalence of cardiac sodium channel variants among black, white, asian, and hispanic individuals: Implications for arrhythmogenic susceptibility and brugada/long QT syndrome genetic testing
-
Ackerman MJ, Splawski I, Makielski JC, et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004;1 (5):600-607.
-
(2004)
Heart Rhythm.
, vol.1
, Issue.5
, pp. 600-607
-
-
Ackerman, M.J.1
Splawski, I.2
Makielski, J.C.3
-
33
-
-
84946069451
-
UniProt: A hub for protein information
-
Database issue
-
UniProt Consortium. UniProt: a hub for protein information. Nucleic Acids Res. 2015;43(Database issue):D204-D212.
-
(2015)
Nucleic Acids Res.
, vol.43
, pp. D204-D212
-
-
-
34
-
-
0029992905
-
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
-
Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics. 1996;34(1): 9-16.
-
(1996)
Genomics
, vol.34
, Issue.1
, pp. 9-16
-
-
Wang, Q.1
Li, Z.2
Shen, J.3
Keating, M.T.4
-
35
-
-
17344389134
-
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1
-
Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT. Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998;51(1):86-97.
-
(1998)
Genomics
, vol.51
, Issue.1
, pp. 86-97
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
Vincent, G.M.4
Lehmann, M.H.5
Keating, M.T.6
|