Publications by authors named "Alan Stuart"

22Publications

Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.

FASEB J 2020 Jul 22;34(7):9297-9306. Epub 2020 May 22.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, ON, Canada.

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http://dx.doi.org/10.1096/fj.202000463RDOI Listing
July 2020

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.

J Med Genet 2020 May 6. Epub 2020 May 6.

Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences Centre, London, Ontario, Canada

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http://dx.doi.org/10.1136/jmedgenet-2019-106641DOI Listing
May 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

A unique triadin exon deletion causing a null phenotype.

HeartRhythm Case Rep 2018 Nov 4;4(11):514-518. Epub 2018 Aug 4.

Bristol Royal Hospital for Children, Bristol, United Kingdom.

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http://dx.doi.org/10.1016/j.hrcr.2018.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241331PMC
November 2018

Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

Physiol Rep 2018 09;6(17):e13845

School of Physiology, Pharmacology and Neuroscience, Medical Sciences Building, University Walk, Bristol, United Kingdom.

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http://dx.doi.org/10.14814/phy2.13845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119704PMC
September 2018

Ventricular fibromas in children, arrhythmia risk, and outcomes: A multicenter study.

Heart Rhythm 2018 10 12;15(10):1507-1512. Epub 2018 Jun 12.

Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom; Bristol Heart Institute, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15475271183058
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http://dx.doi.org/10.1016/j.hrthm.2018.06.018DOI Listing
October 2018

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.

J Mol Diagn 2017 11 15;19(6):905-920. Epub 2017 Aug 15.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.07.004DOI Listing
November 2017

Entirely subcutaneous defibrillator and complex congenital heart disease: Data on long-term clinical follow-up.

World J Cardiol 2017 Jun;9(6):547-552

Paolo Ferrero, Palash Barman, Alan Graham Stuart, Adult Congenital Heart Disease, Bristol Heart Institute, University of Bristol, Bristol BS2 8HW, United Kingdom.

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http://dx.doi.org/10.4330/wjc.v9.i6.547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491472PMC
June 2017

A survey of exercise advice and recommendations in United Kingdom paediatric cardiac clinics.

Cardiol Young 2017 Jul 16;27(5):951-956. Epub 2017 Jan 16.

2Congenital Heart Unit,Bristol Royal Hospital for Children/Bristol Heart Institute,Bristol,United Kingdom.

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https://www.cambridge.org/core/product/identifier/S104795111
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http://dx.doi.org/10.1017/S1047951116002729DOI Listing
July 2017

 GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.

Ann Hepatol 2016 Nov-Dec 2016;15(6):907-910

Department of Medicine and Laboratory Medicine, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.5604/16652681.1222109DOI Listing
February 2017

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

J Mol Diagn 2016 09 2;18(5):657-667. Epub 2016 Jul 2.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.04.002DOI Listing
September 2016

Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.

Pacing Clin Electrophysiol 2016 May 2;39(5):497-501. Epub 2016 Mar 2.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.

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http://dx.doi.org/10.1111/pace.12813DOI Listing
May 2016

A concerted appeal for international cooperation in preclinical stroke research.

Stroke 2013 Jun 18;44(6):1754-60. Epub 2013 Apr 18.

Department of Neurology and Experimental Neurology, Center for Stroke Research Berlin, Charité University Medicine, Campus Mitte, D-10098 Berlin, Germany.

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http://dx.doi.org/10.1161/STROKEAHA.113.000734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933930PMC
June 2013

Changing lesion demographics of the adult with congenital heart disease: an emerging population with complex needs.

Future Cardiol 2012 Mar;8(2):305-13

Congenital Heart Unit, Bristol Royal Hospital for Children/Bristol Heart Institute, Upper Maudlin St, Bristol, BS2 8XW, UK.

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http://dx.doi.org/10.2217/fca.12.8DOI Listing
March 2012

Marfan's syndrome and the heart.

Arch Dis Child 2007 Apr;92(4):351-6

Congenital Heart Centre, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, UK.

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http://dx.doi.org/10.1136/adc.2006.097469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083669PMC
April 2007

Terminal arrhythmia in a patient with Mustard's operation.

Cardiol Young 2006 Oct;16(5):498-500

Congenital Cardiac Unit, United Bristol Healthcare NHS Trust, Bristol, United Kingdom.

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http://dx.doi.org/10.1017/S1047951106001120DOI Listing
October 2006