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Items: 1 to 50 of 179

1.

Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.

Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR, Ackerman MJ.

Heart Rhythm. 2019 Sep 5. pii: S1547-5271(19)30735-0. doi: 10.1016/j.hrthm.2019.08.014. [Epub ahead of print]

PMID:
31493592
2.

Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.

Estes SI, Ye D, Zhou W, Dotzler SM, Tester DJ, Bos JM, Kim CSJ, Ackerman MJ.

Circ Genom Precis Med. 2019 Aug;12(8):e002534. doi: 10.1161/CIRCGEN.119.002534. Epub 2019 Aug 20.

PMID:
31430211
3.

Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.

Mellor GJ, Panwar P, Lee AK, Steinberg C, Hathaway JA, Bartels K, Christian S, Balaji S, Roberts JD, Simpson CS, Boczek NJ, Tester DJ, Radbill AE, Mok NS, Hamilton RM, Kaufman ES, Eugenio PL, Weiss R, January C, McDaniel GM, Leather RA, Erickson C, Falik S, Behr ER, Wilde AAM, Sanatani S, Ackerman MJ, Van Petegem F, Krahn AD, Laksman Z.

Europace. 2019 Aug 13. pii: euz215. doi: 10.1093/europace/euz215. [Epub ahead of print]

PMID:
31408100
4.

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC, Lahrouchi N, Makita N, Norrish G, Odland HH, Ohno S, Papagiannis J, Parati G, Sekarski N, Tveten K, Vatta M, Webster G, Wilde AAM, Wojciak J, George AL, Ackerman MJ, Schwartz PJ.

Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.

PMID:
31170290
5.

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.

Giudicessi JR, Lieve KVV, Rohatgi RK, Koca F, Tester DJ, van der Werf C, Martijn Bos J, Wilde AAM, Ackerman MJ.

Circ Genom Precis Med. 2019 May;12(5):e002510. doi: 10.1161/CIRCGEN.119.002510.

PMID:
31112425
6.

A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome.

Bains S, Tester DJ, Asirvatham SJ, Noseworthy PA, Ackerman MJ, Giudicessi JR.

Mayo Clin Proc. 2019 May;94(5):906-913. doi: 10.1016/j.mayocp.2018.11.028. Epub 2019 Mar 29.

PMID:
30935706
7.

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication.

Stutzman MJ, Ye D, Tester DJ, Giudicessi JR, Ackerman MJ.

HeartRhythm Case Rep. 2018 Dec 11;5(3):163-168. doi: 10.1016/j.hrcr.2018.11.019. eCollection 2019 Mar. No abstract available.

8.

Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.

Zhou W, Bos JM, Ye D, Tester DJ, Hrstka S, Maleszewski JJ, Ommen SR, Nishimura RA, Schaff HV, Kim CS, Ackerman MJ.

J Cardiovasc Transl Res. 2019 Oct;12(5):394-403. doi: 10.1007/s12265-019-09873-6. Epub 2019 Feb 22.

PMID:
30796699
9.

Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young.

Tester DJ, Ackerman JP, Giudicessi JR, Ackerman NC, Cerrone M, Delmar M, Ackerman MJ.

JACC Clin Electrophysiol. 2019 Jan;5(1):120-127. doi: 10.1016/j.jacep.2018.09.010. Epub 2018 Nov 1.

PMID:
30678776
10.

International Triadin Knockout Syndrome Registry.

Clemens DJ, Tester DJ, Giudicessi JR, Bos JM, Rohatgi RK, Abrams DJ, Balaji S, Crotti L, Faure J, Napolitano C, Priori SG, Probst V, Rooryck-Thambo C, Roux-Buisson N, Sacher F, Schwartz PJ, Silka MJ, Walsh MA, Ackerman MJ.

Circ Genom Precis Med. 2019 Feb;12(2):e002419. doi: 10.1161/CIRCGEN.118.002419.

PMID:
30649896
11.

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.

Tester DJ, Wong LCH, Chanana P, Gray B, Jaye A, Evans JM, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Behr ER, Ackerman MJ.

J Pediatr. 2018 Dec;203:423-428.e11. doi: 10.1016/j.jpeds.2018.08.011. Epub 2018 Sep 26.

PMID:
30268395
12.
13.

Noncardiac genetic predisposition in sudden infant death syndrome.

Gray B, Tester DJ, Wong LC, Chanana P, Jaye A, Evans JM, Baruteau AE, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Ackerman MJ, Behr ER.

Genet Med. 2019 Mar;21(3):641-649. doi: 10.1038/s41436-018-0131-4. Epub 2018 Aug 24.

PMID:
30139991
14.

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L, Shimizu W, Bos JM, Stephenson EA, Wong L, Abrams DJ, Davis AM, Winbo A, Dubin AM, Sanatani S, Liberman L, Kaski JP, Rudic B, Kwok SY, Rieubland C, Tfelt-Hansen J, Van Hare GF, Guyomarc'h-Delasalle B, Blom NA, Wijeyeratne YD, Gourraud JB, Le Marec H, Ozawa J, Fressart V, Lupoglazoff JM, Dagradi F, Spazzolini C, Aiba T, Tester DJ, Zahavich LA, Beauséjour-Ladouceur V, Jadhav M, Skinner JR, Franciosi S, Krahn AD, Abdelsayed M, Ruben PC, Yung TC, Ackerman MJ, Wilde AA, Schwartz PJ, Probst V.

Eur Heart J. 2018 Aug 14;39(31):2879-2887. doi: 10.1093/eurheartj/ehy412.

PMID:
30059973
15.

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).

Podliesna S, Delanne J, Miller L, Tester DJ, Uzunyan M, Yano S, Klerk M, Cannon BC, Khongphatthanayothin A, Laurent G, Bertaux G, Falcon-Eicher S, Wu S, Yen HY, Gao H, Wilde AAM, Faivre L, Ackerman MJ, Lodder EM, Bezzina CR.

Heart Rhythm. 2019 Jan;16(1):98-105. doi: 10.1016/j.hrthm.2018.07.015. Epub 2018 Aug 17.

PMID:
30010057
16.

Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death.

Haïssaguerre M, Hocini M, Cheniti G, Duchateau J, Sacher F, Puyo S, Cochet H, Takigawa M, Denis A, Martin R, Derval N, Bordachar P, Ritter P, Ploux S, Pambrun T, Klotz N, Massoullié G, Pillois X, Dallet C, Schott JJ, Scouarnec S, Ackerman MJ, Tester D, Piot O, Pasquié JL, Leclerc C, Hermida JS, Gandjbakhch E, Maury P, Labrousse L, Coronel R, Jais P, Benoist D, Vigmond E, Potse M, Walton R, Nademanee K, Bernus O, Dubois R.

Circ Arrhythm Electrophysiol. 2018 Jul;11(7):e006120. doi: 10.1161/CIRCEP.117.006120.

PMID:
30002064
17.

Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients.

Hu RM, Tester DJ, Li R, Sun T, Peterson BZ, Ackerman MJ, Makielski JC, Tan BH.

Channels (Austin). 2018;12(1):176-186. doi: 10.1080/19336950.2018.1475794.

18.

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Shanks GW, Tester DJ, Ackerman JP, Simpson MA, Behr ER, White SM, Ackerman MJ.

Circulation. 2018 Jun 19;137(25):2705-2715. doi: 10.1161/CIRCULATIONAHA.117.031053.

PMID:
29915097
19.

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

Paquin A, Ye D, Tester DJ, Kapplinger JD, Zimmermann MT, Ackerman MJ.

HeartRhythm Case Rep. 2017 Dec 11;4(2):37-44. doi: 10.1016/j.hrcr.2017.04.006. eCollection 2018 Feb. No abstract available.

20.

Response by Kapplinger et al to Letter Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".

Kapplinger JD, Tester DJ, Ackerman MJ.

Circ Genom Precis Med. 2018 May;11(5):e002176. doi: 10.1161/CIRCGEN.118.002176. No abstract available.

PMID:
29752402
21.

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

Smith JL, Tester DJ, Hall AR, Burgess DE, Hsu CC, Elayi SC, Anderson CL, January CT, Luo JZ, Hartzel DN, Mirshahi UL, Murray MF, Mirshahi T, Ackerman MJ, Delisle BP.

Circ Arrhythm Electrophysiol. 2018 May;11(5):e005859. doi: 10.1161/CIRCEP.117.005859.

PMID:
29752375
22.

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.

Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ.

Heart Rhythm. 2018 Aug;15(8):1223-1230. doi: 10.1016/j.hrthm.2018.03.038. Epub 2018 Apr 3.

23.

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E.

Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5.

24.

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR, Evans MJ, Fleming P, Jeffrey I, Cohen MC, Tfelt-Hansen J, Simpson MA, Behr ER, Ackerman MJ.

J Am Coll Cardiol. 2018 Mar 20;71(11):1217-1227. doi: 10.1016/j.jacc.2018.01.030.

25.

Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart.

Jones DK, Johnson AC, Roti Roti EC, Liu F, Uelmen R, Ayers RA, Baczko I, Tester DJ, Ackerman MJ, Trudeau MC, Robertson GA.

J Cell Sci. 2018 Mar 22;131(6). pii: jcs206730. doi: 10.1242/jcs.206730.

26.

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Kapplinger JD, Pundi KN, Larson NB, Callis TE, Tester DJ, Bikker H, Wilde AAM, Ackerman MJ.

Circ Genom Precis Med. 2018 Feb;11(2):e001424. doi: 10.1161/CIRCGEN.116.001424.

27.

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Clemens DJ, Lentino AR, Kapplinger JD, Ye D, Zhou W, Tester DJ, Ackerman MJ.

Heart Rhythm. 2018 Apr;15(4):555-561. doi: 10.1016/j.hrthm.2017.11.032. Epub 2017 Dec 2.

28.

Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.

Strege PR, Mazzone A, Bernard CE, Neshatian L, Gibbons SJ, Saito YA, Tester DJ, Calvert ML, Mayer EA, Chang L, Ackerman MJ, Beyder A, Farrugia G.

Am J Physiol Gastrointest Liver Physiol. 2018 Apr 1;314(4):G494-G503. doi: 10.1152/ajpgi.00016.2017. Epub 2017 Nov 22.

29.

Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.

Shanks GW, Tester DJ, Nishtala S, Evans JM, Ackerman MJ.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001828. doi: 10.1161/CIRCGENETICS.117.001828.

PMID:
28986455
30.

Sudden infant death syndrome and inherited cardiac conditions.

Baruteau AE, Tester DJ, Kapplinger JD, Ackerman MJ, Behr ER.

Nat Rev Cardiol. 2017 Dec;14(12):715-726. doi: 10.1038/nrcardio.2017.129. Epub 2017 Sep 7. Review.

PMID:
28880023
31.

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.

Shehab O, Tester DJ, Ackerman NC, Cowchock FS, Ackerman MJ.

Prenat Diagn. 2017 Oct;37(10):1040-1045. doi: 10.1002/pd.5142. Epub 2017 Sep 12.

PMID:
28833278
32.

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Roberts JD, Krahn AD, Ackerman MJ, Rohatgi RK, Moss AJ, Nazer B, Tadros R, Gerull B, Sanatani S, Wijeyeratne YD, Baruteau AE, Muir AR, Pang B, Cadrin-Tourigny J, Talajic M, Rivard L, Tester DJ, Liu T, Whitman IR, Wojciak J, Conacher S, Gula LJ, Leong-Sit P, Manlucu J, Green MS, Hamilton R, Healey JS, Lopes CM, Behr ER, Wilde AA, Gollob MH, Scheinman MM.

Circ Arrhythm Electrophysiol. 2017 Aug;10(8). pii: e005282. doi: 10.1161/CIRCEP.117.005282.

PMID:
28794082
33.

Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm.

Cerrone M, Montnach J, Lin X, Zhao YT, Zhang M, Agullo-Pascual E, Leo-Macias A, Alvarado FJ, Dolgalev I, Karathanos TV, Malkani K, Van Opbergen CJM, van Bavel JJA, Yang HQ, Vasquez C, Tester D, Fowler S, Liang F, Rothenberg E, Heguy A, Morley GE, Coetzee WA, Trayanova NA, Ackerman MJ, van Veen TAB, Valdivia HH, Delmar M.

Nat Commun. 2017 Jul 24;8(1):106. doi: 10.1038/s41467-017-00127-0.

34.

Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

Turkowski KL, Tester DJ, Bos JM, Haugaa KH, Ackerman MJ.

Congenit Heart Dis. 2017 Mar;12(2):226-235. doi: 10.1111/chd.12462. Epub 2017 Mar 21.

PMID:
28326674
35.

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ.

JCI Insight. 2017 Mar 9;2(5):e91225. doi: 10.1172/jci.insight.91225.

36.

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Kapplinger JD, Erickson A, Asuri S, Tester DJ, McIntosh S, Kerr CR, Morrison J, Tang A, Sanatani S, Arbour L, Ackerman MJ.

J Med Genet. 2017 Jun;54(6):390-398. doi: 10.1136/jmedgenet-2016-104153. Epub 2017 Mar 6.

37.

Congenital myopathy associated with the triadin knockout syndrome.

Engel AG, Redhage KR, Tester DJ, Ackerman MJ, Selcen D.

Neurology. 2017 Mar 21;88(12):1153-1156. doi: 10.1212/WNL.0000000000003745. Epub 2017 Feb 15.

38.

Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing.

Tester DJ, Ackerman MJ.

Cardiol Young. 2017 Jan;27(S1):S19-S24. doi: 10.1017/S1047951116002183. Review.

PMID:
28084956
39.

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.

Ackerman JP, Bartos DC, Kapplinger JD, Tester DJ, Delisle BP, Ackerman MJ.

Mayo Clin Proc. 2016 Oct 8. pii: S0025-6196(16)30463-3. doi: 10.1016/j.mayocp.2016.08.008. [Epub ahead of print] Review.

40.

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.

Limpitikul WB, Dick IE, Tester DJ, Boczek NJ, Limphong P, Yang W, Choi MH, Babich J, DiSilvestre D, Kanter RJ, Tomaselli GF, Ackerman MJ, Yue DT.

Circ Res. 2017 Jan 6;120(1):39-48. doi: 10.1161/CIRCRESAHA.116.309283. Epub 2016 Oct 20.

41.

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Zhang L, Tester DJ, Lang D, Chen Y, Zheng J, Gao R, Corliss RF, Tang S, Kyle JW, Liu C, Ackerman MJ, Makielski JC, Cheng J.

Mayo Clin Proc. 2016 Nov;91(11):1503-1514. doi: 10.1016/j.mayocp.2016.06.031. Epub 2016 Oct 1.

42.

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Wilde AA, Moss AJ, Kaufman ES, Shimizu W, Peterson DR, Benhorin J, Lopes C, Towbin JA, Spazzolini C, Crotti L, Zareba W, Goldenberg I, Kanters JK, Robinson JL, Qi M, Hofman N, Tester DJ, Bezzina CR, Alders M, Aiba T, Kamakura S, Miyamoto Y, Andrews ML, McNitt S, Polonsky B, Schwartz PJ, Ackerman MJ.

Circulation. 2016 Sep 20;134(12):872-82. doi: 10.1161/CIRCULATIONAHA.116.021823. Epub 2016 Aug 26.

43.

Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC.

Circ Arrhythm Electrophysiol. 2016 Aug;9(8). pii: e004161. doi: 10.1161/CIRCEP.116.004161.

44.

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

Ackerman JP, Smestad JA, Tester DJ, Qureshi MY, Crabb BA, Mendelsohn NJ, Ackerman MJ.

Congenit Heart Dis. 2016 Sep;11(5):452-461. doi: 10.1111/chd.12400. Epub 2016 Jul 25.

PMID:
27452334
45.

Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.

Sutphin BS, Boczek NJ, Barajas-Martínez H, Hu D, Ye D, Tester DJ, Antzelevitch C, Ackerman MJ.

Congenit Heart Dis. 2016 Dec;11(6):683-692. doi: 10.1111/chd.12371. Epub 2016 May 24.

PMID:
27218670
46.

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.

Anderson JH, Tester DJ, Will ML, Ackerman MJ.

Circ Cardiovasc Genet. 2016 Jun;9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. Epub 2016 Apr 25.

PMID:
27114410
47.

Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ.

Circ Cardiovasc Genet. 2016 Apr;9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11.

48.

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ.

Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6.

PMID:
26739101
49.

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

Boczek NJ, Ye D, Jin F, Tester DJ, Huseby A, Bos JM, Johnson AJ, Kanter R, Ackerman MJ.

Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1122-32. doi: 10.1161/CIRCEP.115.002745. Epub 2015 Aug 7.

50.

Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

Hu RM, Tan BH, Tester DJ, Song C, He Y, Dovat S, Peterson BZ, Ackerman MJ, Makielski JC.

PLoS One. 2015 Apr 29;10(4):e0124921. doi: 10.1371/journal.pone.0124921. eCollection 2015.

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