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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Nature reviews. Genetics, 2013-10, Vol.14 (10), p.681

2013

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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

The Science of the total environment, 2021-05, Vol.770, p.145319-145319, Article 145319

2021

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Quantitative analysis of SARS-CoV-2 RNA from wastewater solids in communities with low COVID-19 incidence and prevalence

Water research (Oxford), 2021-01, Vol.188, p.116560-116560, Article 116560

2021

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The European Union as a Global Counter-Terrorism Actor

2022

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Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario

Alcoholism, clinical and experimental research, 2022-02, Vol.46 (2), p.243-251

2022

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Municipal and neighbourhood level wastewater surveillance and subtyping of an influenza virus outbreak

Scientific reports, 2022-09, Vol.12 (1), p.1-11, Article 15777

2022

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COVID-19 wastewater surveillance in rural communities: Comparison of lagoon and pumping station samples

The Science of the total environment, 2021-12, Vol.801, p.149618-149618, Article 149618

2021

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A Review of the Current Impact of Inhibitors of Apoptosis Proteins and Their Repression in Cancer

Cancers, 2022-03, Vol.14 (7), p.1671

2022

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Understanding the dynamic relation between wastewater SARS-CoV-2 signal and clinical metrics throughout the pandemic

The Science of the total environment, 2022-12, Vol.853, p.158458-158458, Article 158458

2022

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Radicalisation, Foreign Fighters and the Ukraine Conflict: A Playground for the Far-Right?

Social sciences (Basel), 2021-04, Vol.10 (4), p.116

2021

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Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3794

2023

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1084-1088

2016

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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

The Science of the total environment, 2022-12, Vol.853, p.158547-158547, Article 158547

2022

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Separating the Wheat from the Chaff: The Use of Upstream Regulator Analysis to Identify True Differential Expression of Single Genes within Transcriptomic Datasets

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6295

2021

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p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR

Human molecular genetics, 2009-11, Vol.18 (21), p.4035-4045

2009

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High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1)

PloS one, 2021-09, Vol.16 (9), p.e0256276

2021

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Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE)

Biochimica et biophysica acta. Molecular basis of disease, 2017-01, Vol.1863 (1), p.121-128

2017

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Nature communications, 2015-01, Vol.6 (1), p.5614-5614, Article 5614

2015

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Impact of coagulation on SARS-CoV-2 and PMMoV viral signal in wastewater solids

Environmental science and pollution research international, 2024-01, Vol.31 (4), p.5242-5253

2024

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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

Genetics (Austin), 2020-08, Vol.215 (4), p.1055-1066

2020

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Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

Canadian journal of neurological sciences, 2021-07, Vol.48 (4), p.504-511

2021

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Rapidly developed, optimized, and applied wastewater surveillance system for real-time monitoring of low-incidence, high-impact MPOX outbreak

Journal of water and health, 2023-09, Vol.21 (9), p.1264-1276

2023

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Conspicuous by their absence? The member states in European Union counter-terrorism

Journal of European Integration, 2024-02, Vol.46 (2), p.155-170

MacKenzie, Alex

2024

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.350-356

2022

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Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

The Journal of clinical investigation, 2011-08, Vol.121 (8), p.3042-3050

2011

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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

Quantitative analysis of SARS-CoV-2 RNA from wastewater solids in communities with low COVID-19 incidence and prevalence

The European Union as a Global Counter-Terrorism Actor

Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario

Municipal and neighbourhood level wastewater surveillance and subtyping of an influenza virus outbreak

COVID-19 wastewater surveillance in rural communities: Comparison of lagoon and pumping station samples

A Review of the Current Impact of Inhibitors of Apoptosis Proteins and Their Repression in Cancer

Understanding the dynamic relation between wastewater SARS-CoV-2 signal and clinical metrics throughout the pandemic

Radicalisation, Foreign Fighters and the Ukraine Conflict: A Playground for the Far-Right?

Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

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

Separating the Wheat from the Chaff: The Use of Upstream Regulator Analysis to Identify True Differential Expression of Single Genes within Transcriptomic Datasets

p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR

High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1)

Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE)

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Impact of coagulation on SARS-CoV-2 and PMMoV viral signal in wastewater solids

Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

Rapidly developed, optimized, and applied wastewater surveillance system for real-time monitoring of low-incidence, high-impact MPOX outbreak

Conspicuous by their absence? The member states in European Union counter-terrorism

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

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