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

Journal of the American College of Cardiology, 2017-05, Vol.69 (17), p.2134-2145

2017

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

The New England journal of medicine, 2016-06, Vol.374 (25), p.2441-2452

2016

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Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

BMC pediatrics, 2022-12, Vol.22 (1), p.745-745, Article 745

2022

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Validation of Zebrafish (Danio rerio) Reference Genes for Quantitative Real‐time RT‐PCR Normalization

Acta biochimica et biophysica Sinica, 2007-05, Vol.39 (5), p.384-390

2007

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Observations on the Natural History of Camurati‐Engelmann Disease

Journal of bone and mineral research, 2019-05, Vol.34 (5), p.875-882

2019

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Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar

The journal of clinical endocrinology and metabolism, 2023-11, Vol.108 (12), p.3201-3213

2023

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Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

BMC medical genetics, 2015-05, Vol.16 (1), p.34-34, Article 34

2015

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Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

Heart rhythm, 2014, Vol.11 (1), p.76-82

2014

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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

BMC nephrology, 2024-04, Vol.25 (1), p.139-139, Article 139

2024

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Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

Advances in Bioinformatics, 2016, Vol.2016, p.5614058-10

2016

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

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.17-22

2020

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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.305-308

2016

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Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs?

Heart rhythm, 2013-02, Vol.10 (2), p.233-238

2013

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The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.409-414

2016

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Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

Heart rhythm, 2020-08, Vol.17 (8), p.1304-1311

2020

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Association of vitamin D receptor gene polymorphisms with insulin resistance and response to vitamin D

Metabolism, clinical and experimental, 2012-03, Vol.61 (3), p.293-301

2012

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

Medical sciences (Basel), 2017-10, Vol.5 (4), p.22

2017

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Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non‐small‐cell lung cancer in New Zealand

Internal medicine journal, 2020-06, Vol.50 (6), p.716-725

2020

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Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

Sultan Qaboos University medical journal, 2019-11, Vol.19 (4), p.e324-e334

2019

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A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

Journal of clinical immunology, 2021-11, Vol.41 (8), p.1839-1852

2021

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Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test

Oncotarget, 2017-11, Vol.8 (60), p.101437-101451

2017

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Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene

Journal of clinical neuroscience, 2015-12, Vol.22 (12), p.1983-1985

2015

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

JIMD reports, 2023-05, Vol.64 (3), p.223-232

2023

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Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

BMC cardiovascular disorders, 2019-07, Vol.19 (1), p.174-174, Article 174

2019

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

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

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

Validation of Zebrafish (Danio rerio) Reference Genes for Quantitative Real‐time RT‐PCR Normalization

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

Observations on the Natural History of Camurati‐Engelmann Disease

Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

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

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs?

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

Association of vitamin D receptor gene polymorphisms with insulin resistance and response to vitamin D

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

Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non‐small‐cell lung cancer in New Zealand

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

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