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Items: 1 to 50 of 165

1.

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.

Lahrouchi N, Raju H, Lodder EM, Papatheodorou S, Miles C, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen M, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Sheppard MN, Bezzina CR, Behr ER.

Eur J Hum Genet. 2019 Sep 18. doi: 10.1038/s41431-019-0500-8. [Epub ahead of print]

PMID:
31534214
2.

Syncope Due to Ventricular Arrhythmia Triggered by Electronic Gaming.

Lawley CM, Skinner JR, Turner C.

N Engl J Med. 2019 Sep 19;381(12):1180-1181. doi: 10.1056/NEJMc1905537. No abstract available.

PMID:
31532968
3.

Perceptions of Risk of Cardiac Arrest in Individuals Living With a Cardiac Inherited Disease: Are the Doctor and the Patient on the Same Page?

O'Donovan CE, Skinner JR, Broadbent E.

Heart Lung Circ. 2019 Aug 13. pii: S1443-9506(19)31369-1. doi: 10.1016/j.hlc.2019.07.008. [Epub ahead of print]

PMID:
31501048
4.

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Raju H, Ware JS, Skinner JR, Hedley PL, Arno G, Love DR, van der Werf C, Tfelt-Hansen J, Winkel BG, Cohen MC, Li X, John S, Sharma S, Jeffery S, Wilde AAM, Christiansen M, Sheppard MN, Behr ER.

BMC Cardiovasc Disord. 2019 Jul 23;19(1):174. doi: 10.1186/s12872-019-1154-8.

5.

Reference frame and emotions may contribute to discrepancies in patient and clinician risk estimates in Long QT syndrome.

O'Donovan CE, Skinner JR, Broadbent E.

Patient Educ Couns. 2019 Jun 22. pii: S0738-3991(19)30254-X. doi: 10.1016/j.pec.2019.06.021. [Epub ahead of print]

PMID:
31262672
6.

Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest.

van der Werf C, Lieve KV, Bos JM, Lane CM, Denjoy I, Roses-Noguer F, Aiba T, Wada Y, Ingles J, Leren IS, Rudic B, Schwartz PJ, Maltret A, Sacher F, Skinner JR, Krahn AD, Roston TM, Tfelt-Hansen J, Swan H, Robyns T, Ohno S, Roberts JD, van den Berg MP, Kammeraad JA, Probst V, Kannankeril PJ, Blom NA, Behr ER, Borggrefe M, Haugaa KH, Semsarian C, Horie M, Shimizu W, Till JA, Leenhardt A, Ackerman MJ, Wilde AA.

Eur Heart J. 2019 Sep 14;40(35):2953-2961. doi: 10.1093/eurheartj/ehz309.

PMID:
31145795
7.

Fascicular tachycardia in infancy and the use of verapamil: a case series and literature review.

Kehr J, Binfield A, Maxwell F, Hornung T, Skinner JR.

Arch Dis Child. 2019 Aug;104(8):789-792. doi: 10.1136/archdischild-2018-315617. Epub 2019 Apr 20.

8.

Relationship between socioeconomic factors, distribution of public access defibrillators and incidence of out-of-hospital cardiac arrest.

Dicker B, Garrett N, Wong S, McKenzie H, McCarthy J, Jenkin G, Smith T, Skinner JR, Pegg T, Devlin G, Swain A, Scott T, Todd V.

Resuscitation. 2019 May;138:53-58. doi: 10.1016/j.resuscitation.2019.02.022. Epub 2019 Feb 22.

9.

Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.

Earle NJ, Crawford J, Hayes I, Rees MI, French J, Stiles MK, Waddell-Smith KE, Donoghue T, Monkley R, Neas K, Aitken A, Tse R, Love DR, Skinner JR; Cardiac Inherited Diseases Group.

Am Heart J. 2019 Mar;209:126-130. doi: 10.1016/j.ahj.2018.11.013. Epub 2018 Dec 19. No abstract available.

PMID:
30686478
10.

Catecholaminergic Polymorphic Ventricular Tachycardia: The Cardiac Arrest Where Epinephrine Is Contraindicated.

Bellamy D, Nuthall G, Dalziel S, Skinner JR.

Pediatr Crit Care Med. 2019 Mar;20(3):262-268. doi: 10.1097/PCC.0000000000001847.

11.

Predictors of β-blocker adherence in cardiac inherited disease.

O'Donovan CE, Waddell-Smith KE, Skinner JR, Broadbent E.

Open Heart. 2018 Dec 16;5(2):e000877. doi: 10.1136/openhrt-2018-000877. eCollection 2018.

12.

Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects.

Skinner JR, Winbo A, Abrams D, Vohra J, Wilde AA.

Heart Lung Circ. 2019 Jan;28(1):22-30. doi: 10.1016/j.hlc.2018.09.007. Epub 2018 Oct 4. Review.

PMID:
30389366
13.

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.

Gardner RJM, Crozier IG, Binfield AL, Love DR, Lehnert K, Gibson K, Lintott CJ, Snell RG, Jacobsen JC, Jones PP, Waddell-Smith KE, Kennedy MA, Skinner JR.

Mol Genet Genomic Med. 2019 Jan;7(1):e00476. doi: 10.1002/mgg3.476. Epub 2018 Oct 21.

14.

Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.

Robertson SP, Hindmarsh JH, Berry S, Cameron VA, Cox MP, Dewes O, Doughty RN, Gray G, Jacobsen JC, Laurence A, Matisoo-Smith E, Morton S, Shelling AN, Sika-Paotonu D, Rolleston A, Skinner JR, Snell RG, Sporle A, Print C, Merriman TR, Hudson M, Wilcox P.

N Z Med J. 2018 Aug 17;131(1480):81-89.

PMID:
30116069
15.

Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.

Dufendach KA, Timothy K, Ackerman MJ, Blevins B, Pflaumer A, Etheridge S, Perry J, Blom NA, Temple J, Chowdhury D, Skinner JR, Johnsrude C, Bratincsak A, Bos JM, Shah M.

JACC Clin Electrophysiol. 2018 Apr;4(4):459-466. doi: 10.1016/j.jacep.2017.08.007. Epub 2017 Nov 6.

16.

Life-Threatening Event Risk in Children With Wolff-Parkinson-White Syndrome: A Multicenter International Study.

Etheridge SP, Escudero CA, Blaufox AD, Law IH, Dechert-Crooks BE, Stephenson EA, Dubin AM, Ceresnak SR, Motonaga KS, Skinner JR, Marcondes LD, Perry JC, Collins KK, Seslar SP, Cabrera M, Uzun O, Cannon BC, Aziz PF, Kubuš P, Tanel RE, Valdes SO, Sami S, Kertesz NJ, Maldonado J, Erickson C, Moore JP, Asakai H, Mill L, Abcede M, Spector ZZ, Menon S, Shwayder M, Bradley DJ, Cohen MI, Sanatani S.

JACC Clin Electrophysiol. 2018 Apr;4(4):433-444. doi: 10.1016/j.jacep.2017.10.009. Epub 2017 Nov 15.

17.

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
18.

Use of Coronial Post-mortem Tissue for Research in New Zealand.

Bellissima BL, Garavan F, Skinner JR, Tingle MD.

J Law Med. 2017 Nov;25(1):205-209.

PMID:
29978632
19.

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Marcondes L, Crawford J, Earle N, Smith W, Hayes I, Morrow P, Donoghue T, Graham A, Love D, Skinner JR; Cardiac Inherited Disease Group New Zealand.

PLoS One. 2018 Apr 19;13(4):e0196078. doi: 10.1371/journal.pone.0196078. eCollection 2018.

20.

Arrhythmias in congenital heart disease: a position paper of the European Heart Rhythm Association (EHRA), Association for European Paediatric and Congenital Cardiology (AEPC), and the European Society of Cardiology (ESC) Working Group on Grown-up Congenital heart disease, endorsed by HRS, PACES, APHRS, and SOLAECE.

Hernández-Madrid A, Paul T, Abrams D, Aziz PF, Blom NA, Chen J, Chessa M, Combes N, Dagres N, Diller G, Ernst S, Giamberti A, Hebe J, Janousek J, Kriebel T, Moltedo J, Moreno J, Peinado R, Pison L, Rosenthal E, Skinner JR, Zeppenfeld K; ESC Scientific Document Group.

Europace. 2018 Nov 1;20(11):1719-1753. doi: 10.1093/europace/eux380.

PMID:
29579186
21.

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS, Stuckey A, Belluoccio D, Fan V, Skinner JR, Prosser DO, Love DR.

Med Sci (Basel). 2017 Oct 10;5(4). pii: E22. doi: 10.3390/medsci5040022.

22.

How to measure a QT interval.

Waddell-Smith K, Gow RM, Skinner JR.

Med J Aust. 2017 Aug 7;207(3):107-110. No abstract available.

PMID:
28764626
23.

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.

Leong IUS, Dryland PA, Prosser DO, Lai SW, Graham M, Stiles M, Crawford J, Skinner JR, Love DR.

J Clin Med Res. 2017 Aug;9(8):709-718. doi: 10.14740/jocmr2894w. Epub 2017 Jul 1.

24.

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen MC, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Bezzina CR, Sheppard MN, Behr ER.

J Am Coll Cardiol. 2017 May 2;69(17):2134-2145. doi: 10.1016/j.jacc.2017.02.046.

25.

Detection of pneumothorax in the preterm infant with ultrasound.

Skinner JR.

J Paediatr Child Health. 2016 Dec;52(12):1122. doi: 10.1111/jpc.13363. No abstract available.

PMID:
27989007
26.

Ventricular extrasystoles and ventricular dysfunction: Too close for comfort?

Martin AP, Skinner JR.

Heart Rhythm. 2016 Nov;13(11):2149-2150. doi: 10.1016/j.hrthm.2016.08.002. Epub 2016 Aug 2. No abstract available.

PMID:
27496585
27.

β-Blocker Adherence in Familial Long QT Syndrome.

Waddell-Smith KE, Li J, Smith W, Crawford J, Skinner JR; Cardiac Inherited Disease Group New Zealand.

Circ Arrhythm Electrophysiol. 2016 Aug;9(8). pii: e003591. doi: 10.1161/CIRCEP.115.003591.

PMID:
27516460
28.

A simple breath test for tuberculosis using ion mobility: A pilot study.

Sahota AS, Gowda R, Arasaradnam RP, Daulton E, Savage RS, Skinner JR, Adams E, Ward SA, Covington JA.

Tuberculosis (Edinb). 2016 Jul;99:143-6. doi: 10.1016/j.tube.2016.05.005. Epub 2016 May 29.

29.

A Prospective Study of Sudden Cardiac Death among Children and Young Adults.

Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C.

N Engl J Med. 2016 Jun 23;374(25):2441-52. doi: 10.1056/NEJMoa1510687.

30.

Update on the Diagnosis and Management of Familial Long QT Syndrome.

Waddell-Smith KE, Skinner JR; members of the CSANZ Genetics Council Writing Group.

Heart Lung Circ. 2016 Aug;25(8):769-76. doi: 10.1016/j.hlc.2016.01.020. Epub 2016 Mar 5.

PMID:
27262388
31.

Sudden Infant Death: QT or Not QT? That Is No Longer the Question.

Davis AM, Glengarry J, Skinner JR.

Circ Arrhythm Electrophysiol. 2016 Jun;9(6). pii: e003859. doi: 10.1161/CIRCEP.115.003859. Review. No abstract available.

PMID:
27217342
32.

Inpatient detection of cardiac-inherited disease: the impact of improving family history taking.

Waddell-Smith KE, Donoghue T, Oates S, Graham A, Crawford J, Stiles MK, Aitken A, Skinner JR.

Open Heart. 2016 Feb 16;3(1):e000329. doi: 10.1136/openhrt-2015-000329. eCollection 2016.

33.

High Arrhythmic Burden but Low Mortality during Long-term Follow-up in Arrhythmogenic Right Ventricular Cardiomyopathy.

Martin A, Crawford J, Skinner JR, Smith W; Cardiac Inherited Diseases Group.

Heart Lung Circ. 2016 Mar;25(3):275-81. doi: 10.1016/j.hlc.2015.08.019. Epub 2015 Sep 28.

PMID:
26546095
34.

Multiple atrial thrombi in a neonate presenting with supraventricular tachycardia.

Mitchelson BL, Skinner JR, Donnell CO.

HeartRhythm Case Rep. 2015 Oct 23;2(1):71-73. doi: 10.1016/j.hrcr.2015.10.006. eCollection 2016 Jan. No abstract available.

35.

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy.

Earle N, Ingles J, Bagnall RD, Gray B, Crawford J, Smith W, Shelling AN, Love DR, Semsarian C, Skinner JR.

J Cardiovasc Electrophysiol. 2015 Dec;26(12):1346-51. doi: 10.1111/jce.12827. Epub 2015 Oct 13.

PMID:
26332198
36.

Physical and Psychological Consequences of Left Cardiac Sympathetic Denervation in Long-QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia.

Waddell-Smith KE, Ertresvaag KN, Li J, Chaudhuri K, Crawford JR, Hamill JK, Haydock D, Skinner JR; Cardiac Inherited Disease Group New Zealand.

Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1151-8. doi: 10.1161/CIRCEP.115.003159. Epub 2015 Jul 29.

PMID:
26224781
37.

People with long QT syndrome who have attention deficit hyperactivity disorder deserve to be treated properly.

Skinner JR, Muir C.

Heart Rhythm. 2015 Aug;12(8):1813-4. doi: 10.1016/j.hrthm.2015.05.015. Epub 2015 May 14. No abstract available.

PMID:
25981146
38.
39.

Letter to the Editor--Detection of long QT syndrome in the community.

Skinner JR, Van Hare GF.

Heart Rhythm. 2015 Jul;12(7):e67. doi: 10.1016/j.hrthm.2015.04.020. Epub 2015 Apr 17. No abstract available.

PMID:
25896012
40.

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.

Leong IU, Sucich J, Prosser DO, Skinner JR, Crawford JR, Higgins C, Love DR.

Ups J Med Sci. 2015;120(3):190-7. doi: 10.3109/03009734.2015.1029101. Epub 2015 Apr 2.

41.

Perilipin 5-Driven Lipid Droplet Accumulation in Skeletal Muscle Stimulates the Expression of Fibroblast Growth Factor 21.

Harris LA, Skinner JR, Shew TM, Pietka TA, Abumrad NA, Wolins NE.

Diabetes. 2015 Aug;64(8):2757-68. doi: 10.2337/db14-1035. Epub 2015 Mar 31.

42.

Genetic markers of repolarization and arrhythmic events after acute coronary syndromes.

Earle NJ, Poppe KK, Pilbrow AP, Cameron VA, Troughton RW, Skinner JR, Love DR, Shelling AN, Whalley GA, Ellis CJ, Richards AM, Doughty RN.

Am Heart J. 2015 Apr;169(4):579-86.e3. doi: 10.1016/j.ahj.2014.11.015. Epub 2014 Dec 11.

PMID:
25819866
43.

Dilated cardiomyopathy in children: Review of all presentations to a children's hospital over a 5-year period and the impact of family cardiac screening.

Herath VC, Gentles TL, Skinner JR.

J Paediatr Child Health. 2015 Jun;51(6):595-9. doi: 10.1111/jpc.12787. Epub 2014 Nov 19. Review.

PMID:
25411083
44.

Must every child with long QT syndrome take a beta blocker?

Waddell-Smith KE, Earle N, Skinner JR.

Arch Dis Child. 2015 Mar;100(3):279-82. doi: 10.1136/archdischild-2014-306864. Epub 2014 Sep 30. Review.

PMID:
25270334
45.

Routine ECG screening in infancy and early childhood should not be performed.

Skinner JR, Van Hare GF.

Heart Rhythm. 2014 Dec;11(12):2322-7. doi: 10.1016/j.hrthm.2014.09.046. Epub 2014 Sep 18. Review.

PMID:
25239431
46.

Assurance of neuroattenuation of a live vaccine against West Nile virus: a comprehensive study of neuropathogenesis after infection with chimeric WN/DEN4Δ30 vaccine in comparison to two parental viruses and a surrogate flavivirus reference vaccine.

Maximova OA, Speicher JM, Skinner JR, Murphy BR, St Claire MC, Ragland DR, Herbert RL, Pare DR, Moore RM, Pletnev AG.

Vaccine. 2014 May 30;32(26):3187-97. doi: 10.1016/j.vaccine.2014.04.002. Epub 2014 Apr 13.

47.

QT prolongation in a child with thyroid storm.

Albert BB, Eckersley LG, Skinner JR, Jefferies C.

BMJ Case Rep. 2014 Apr 12;2014. pii: bcr2013202595. doi: 10.1136/bcr-2013-202595.

48.

Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy.

Skinner JR, Marquis-Nicholson R, Luangpraseuth A, Cutfield R, Crawford J, Love DR.

Case Rep Med. 2014;2014:647252. doi: 10.1155/2014/647252. Epub 2014 Feb 19.

49.

Long QT molecular autopsy in sudden infant death syndrome.

Glengarry JM, Crawford J, Morrow PL, Stables SR, Love DR, Skinner JR.

Arch Dis Child. 2014 Jul;99(7):635-40. Epub 2014 Mar 4.

50.

Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death.

Marquis-Nicholson R, Prosser DO, Love JM, Zhang L, Hayes I, George AM, Crawford JR, Skinner JR, Love DR.

Circ Cardiovasc Genet. 2014 Feb;7(1):17-22. doi: 10.1161/CIRCGENETICS.113.000415. Epub 2014 Jan 6.

PMID:
24395924

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