Publications by authors named "Alan Stuart"

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Epidemiology, clinical characteristics and life-threatening risk profile of WPW in children: a single-center experience in South Wales for 30 years.
Orhan Uzun, Derya Duman, Gulhan Tunca Sahin, Yasemin Nuran Donmez, Afzal Abubakker Bapputty Haji, Alan Graham Stuart

Eur J Pediatr· July 2025

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Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Pratibha Bhai, Jacob Turowec, Stephanie Santos, Jennifer Kerkhof, LeeAnne Pickard, Alan Stuart

Front Oncol· July 2023

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A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study.
Benjamin Chin-Yee, Pratibha Bhai, Ian Cheong, Maxim Matyashin, Cyrus C Hsia, Alan Stuart

J Gen Intern Med· June 2023

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T-cell clonality testing for the diagnosis of T-cell large granular lymphocytic leukemia: Are we identifying pathology or incidental clones?
Benjamin Chin-Yee, Abitha Suthakaran, Benjamin D Hedley, Christopher Howlett, Alan Stuart

Int J Lab Hematol· December 2022

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Secondary causes of elevated hemoglobin in patients undergoing molecular testing for suspected polycythemia vera in southwestern Ontario: a chart review.
Benjamin Chin-Yee, Maxim Matyashin, Ian Cheong, Pratibha Bhai, Alejandro Lazo-Langner, Alan Stuart

CMAJ Open· November 2022

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Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Pratibha Bhai, Benjamin Chin-Yee, Victor Pope, Ian Cheong, Maxim Matyashin, Alan Stuart

Curr Oncol· September 2022

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Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies.
Pratibha Bhai, Cyrus C Hsia, Laila C Schenkel, Benjamin D Hedley, Michael A Levy, Alan Stuart

Mol Diagn Ther· May 2022

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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Alan Stuart

Genet Med· November 2021

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Outcomes From Pediatric Ablation: A Review of 20 Years of National Data.
Mark A Walsh, Cecilia M Gonzalez, Orhan J Uzun, Colin J McMahon, Shankar N Sadagopan, Alan G Stuart

JACC Clin Electrophysiol· November 2021

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Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Pratibha Bhai, Michael A Levy, Kathleen Rooney, Deanna Alexis Carere, Jack Reilly, Alan Stuart

Front Genet· July 2021

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Alan Stuart

Genet Med· June 2021

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Groupe DI France, Mouna Barat-Houari, Alan Stuart

Am J Hum Genet· June 2021

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A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene.
Eman M Mansory, Pratibha Bhai, Alan Stuart, Lori Laudenbach, Bekim Sadikovic

Res Pract Thromb Haemost· May 2021

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Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, Michael Levy, Lauren I Brady

J Med Genet· April 2021

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Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Alan Stuart

Genome Biol· April 2021

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Clinical outcomes and programming strategies of implantable cardioverter-defibrillator devices in paediatric hypertrophic cardiomyopathy: a UK National Cohort Study.
Gabrielle Norrish, Henry Chubb, Ella Field, Karen McLeod, Maria Ilina, Alan Graham Stuart

Europace· March 2021

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Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndrome.
Eri Kawata, Alejandro Lazo-Langner, Anargyros Xenocostas, Cyrus C Hsia, Kang Howson-Jan, Alan Stuart

Br J Haematol· February 2021

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Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
Erfan Aref-Eshghi, Jacob D McGee, Victor P Pedro, Jennifer Kerkhof, Alan Stuart

J Hum Genet· October 2020

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Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.
Mark A Tarnopolsky, Jennifer Kerkhof, Alan Stuart, Adam Bujak, Mats I Nilsson

FASEB J· July 2020

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, , Mouna Barat-Houari, Alan Stuart

Am J Hum Genet· March 2020

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Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.
Michael A Levy, Stephanie Santos, Jennifer Kerkhof, Alan Stuart, Erfan Aref-Eshghi

Eur J Haematol· September 2019

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Alan Stuart

Am J Hum Genet· April 2019

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Eric G Bend, Erfan Aref-Eshghi, David B Everman, R Curtis Rogers, Sara S Cathey, Alan Stuart

Clin Epigenetics· April 2019

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A unique triadin exon deletion causing a null phenotype.
Barry M O'Callaghan, Jules C Hancox, Alan G Stuart, Catherine Armstrong, Maggie M Williams

HeartRhythm Case Rep· November 2018

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Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.
Andrew Butler, Yihong Zhang, Alan G Stuart, Christopher E Dempsey, Jules C Hancox

Physiol Rep· September 2018

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