Search Results - "MacKenzie, Alex E."
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Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Published in Nature reviews. Genetics (01-10-2013)“…Key Points Next-generation sequencing (NGS) and improved sequence analysis methods have markedly increased the rate of identification of genes that cause rare…”
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Catching a resurgence: Increase in SARS-CoV-2 viral RNA identified in wastewater 48 h before COVID-19 clinical tests and 96 h before hospitalizations
Published in The Science of the total environment (20-05-2021)“…Curtailing the Spring 2020 COVID-19 surge required sweeping and stringent interventions by governments across the world. Wastewater-based COVID-19 epidemiology…”
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3
Municipal and neighbourhood level wastewater surveillance and subtyping of an influenza virus outbreak
Published in Scientific reports (22-09-2022)“…Recurrent influenza epidemics and pandemic potential are significant risks to global health. Public health authorities use clinical surveillance to locate and…”
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4
Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model
Published in International journal of molecular sciences (01-02-2023)“…Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is caused by an abnormal expansion of CTG repeats in the 3' untranslated…”
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Rapidly developed, optimized, and applied wastewater surveillance system for real-time monitoring of low-incidence, high-impact MPOX outbreak
Published in Journal of water and health (01-09-2023)“…Abstract Recent MPOX viral resurgences have mobilized public health agencies around the world. Recognizing the significant risk of MPOX outbreaks, large-scale…”
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Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada
Published in Frontiers in public health (26-09-2023)“…Detection of community respiratory syncytial virus (RSV) infections informs the timing of immunoprophylaxis programs and hospital preparedness for surging…”
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Physical Activity, Gut Microbiota, and Genetic Background for Children and Adolescents with Autism Spectrum Disorder
Published in Children (Basel) (27-11-2022)“…It is estimated that one in 100 children worldwide has been diagnosed with autism spectrum disorder (ASD). Children with ASD frequently suffer from gut…”
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Corrigendum: Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada
Published in Frontiers in public health (2024)“…[This corrects the article DOI: 10.3389/fpubh.2023.1261165.]…”
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Quantitative analysis of SARS-CoV-2 RNA from wastewater solids in communities with low COVID-19 incidence and prevalence
Published in Water research (Oxford) (01-01-2021)“…•RT-ddPCR is more sensitive to inhibitors than RT-qPCR for primary clarified sludge.•Primary clarified sludge has elevated frequency of SARS-CoV-2 RNA…”
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A generalizable pre-clinical research approach for orphan disease therapy
Published in Orphanet journal of rare diseases (15-06-2012)“…With the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will…”
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Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario
Published in Alcoholism, clinical and experimental research (01-02-2022)“…Background Estimating rates of prenatal alcohol exposure (PAE) in a population is necessary to ensure that proper medical and social supports and interventions…”
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COVID-19 wastewater surveillance in rural communities: Comparison of lagoon and pumping station samples
Published in The Science of the total environment (20-12-2021)“…Wastewater-based epidemiology/wastewater surveillance has been a topic of significant interest over the last year due to its application in SARS-CoV-2…”
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The Neuronal Apoptosis Inhibitory Protein Is a Direct Inhibitor of Caspases 3 and 7
Published in The Journal of neuroscience (15-03-2002)“…The neuronal apoptosis inhibitory protein (NAIP) was identified as a candidate gene for the inherited neurodegenerative disorder spinal muscular atrophy. NAIP…”
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Understanding the dynamic relation between wastewater SARS-CoV-2 signal and clinical metrics throughout the pandemic
Published in The Science of the total environment (20-12-2022)“…Wastewater surveillance (WWS) of SARS-CoV-2 was proven to be a reliable and complementary tool for population-wide monitoring of COVID-19 disease incidence but…”
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Effective method to mitigate impact of rain or snowmelt sewer flushing events on wastewater-based surveillance measurements
Published in The Science of the total environment (15-12-2024)“…Wastewater-based surveillance (WBS) is increasingly used for monitoring disease targets in wastewaters around the world. This study, performed in Ottawa,…”
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Wastewater to clinical case (WC) ratio of COVID-19 identifies insufficient clinical testing, onset of new variants of concern and population immunity in urban communities
Published in The Science of the total environment (20-12-2022)“…Clinical testing has been the cornerstone of public health monitoring and infection control efforts in communities throughout the COVID-19 pandemic. With the…”
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Sewer transport conditions and their role in the decay of endogenous SARS-CoV-2 and pepper mild mottle virus from source to collection
Published in International journal of hygiene and environmental health (01-01-2025)“…This study presents a comprehensive analysis of the decay patterns of endogenous SARS-CoV-2 and Pepper mild mottle virus (PMMoV) within wastewaters spiked with…”
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Distribution of Neuronal Apoptosis Inhibitory Protein in Human Tissues
Published in The journal of histochemistry and cytochemistry (01-09-2007)“…The neuronal apoptosis inhibitory protein (NAIP) gene, also known as the baculovirus inhibitor of apoptosis repeat-containing protein 1 (BIRC1) gene, is a…”
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Impact of coagulation on SARS-CoV-2 and PMMoV viral signal in wastewater solids
Published in Environmental science and pollution research international (01-01-2024)“…Wastewater surveillance (WWS) of SARS-CoV-2 has become a crucial tool for monitoring COVID-19 cases and outbreaks. Previous studies have indicated that…”
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Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome
Published in Genetics (Austin) (01-08-2020)“…Abstract Dravet syndrome is a developmental epileptic encephalopathy caused by pathogenic variation in SCN1A. To characterize the pathogenic substitution…”
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