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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.681-691

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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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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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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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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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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Physical Activity, Gut Microbiota, and Genetic Background for Children and Adolescents with Autism Spectrum Disorder

Children (Basel), 2022-11, Vol.9 (12), p.1834

2022

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Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada

Frontiers in public health, 2023-09, Vol.11, p.1261165-1261165

2023

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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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Corrigendum: Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada

Frontiers in public health, 2024, Vol.12, p.1354693-1354693

2024

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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 generalizable pre-clinical research approach for orphan disease therapy

Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.39-39, Article 39

2012

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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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The Neuronal Apoptosis Inhibitory Protein Is a Direct Inhibitor of Caspases 3 and 7

The Journal of neuroscience, 2002-03, Vol.22 (6), p.2035-2043

2002

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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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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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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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Distribution of Neuronal Apoptosis Inhibitory Protein in Human Tissues

The journal of histochemistry and cytochemistry, 2007-09, Vol.55 (9), p.911-923

2007

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Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice

Journal of neuroscience research, 2008-10, Vol.86 (13), p.2839-2847

2008

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The inhibitors of apoptosis (IAPs) and their emerging role in cancer

Oncogene, 1998-12, Vol.17 (25), p.3247-3259

1998

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Preclinical target validation using patient-derived cells

Nature reviews. Drug discovery, 2015-03, Vol.14 (3), p.149-150

2015

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Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

Nature genetics, 1992-06, Vol.1 (3), p.192-195

1992

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Current and emerging treatment options for spinal muscular atrophy

Degenerative Neurological and Neuromuscular Disease, 2015-01, Vol.5, p.75-81

2015

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The Simpson-Golabi-Behmel syndrome causative Glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26

Proteomics (Weinheim), 2007-06, Vol.7 (13), p.2300-2310

2007

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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

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

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

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

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

Physical Activity, Gut Microbiota, and Genetic Background for Children and Adolescents with Autism Spectrum Disorder

Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada

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

Corrigendum: Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada

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

A generalizable pre-clinical research approach for orphan disease therapy

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

The Neuronal Apoptosis Inhibitory Protein Is a Direct Inhibitor of Caspases 3 and 7

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

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

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

Distribution of Neuronal Apoptosis Inhibitory Protein in Human Tissues

Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice

The inhibitors of apoptosis (IAPs) and their emerging role in cancer

Preclinical target validation using patient-derived cells

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

Current and emerging treatment options for spinal muscular atrophy

The Simpson-Golabi-Behmel syndrome causative Glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26

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