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Top Articles

#TitleJournalYearCitations
1The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsJournal of Medical Genetics2015187
2ANRIL: A Regulator of VEGF in Diabetic Retinopathy2017143
3lncRNA H19 prevents endothelial–mesenchymal transition in diabetic retinopathyDiabetologia2019141
4Broad and Differential Animal Angiotensin-Converting Enzyme 2 Receptor Usage by SARS-CoV-2Journal of Virology2020139
5Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesAmerican Journal of Human Genetics2018135
6An RB-EZH2 Complex Mediates Silencing of Repetitive DNA SequencesMolecular Cell2016128
7MALAT1: An Epigenetic Regulator of Inflammation in Diabetic RetinopathyScientific Reports2018123
8Individuals with obesity and type 2 diabetes have additional immune dysfunction compared with obese individuals who are metabolically healthyBMJ Open Diabetes Research and Care2017120
9miR-146a mediates inflammatory changes and fibrosis in the heart in diabetesJournal of Molecular and Cellular Cardiology2017118
10Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing PanelsJournal of Molecular Diagnostics2017104
11miR-200b Mediates Endothelial-to-Mesenchymal Transition in Diabetic CardiomyopathyDiabetes2016102
12Structural and Molecular Mechanisms of Cytokine-Mediated Endocrine Resistance in Human Breast Cancer CellsMolecular Cell201799
13Identification of Residues Controlling Restriction versus Enhancing Activities of IFITM Proteins on Entry of Human CoronavirusesJournal of Virology201897
14Impacts and shortcomings of genetic clustering methods for infectious disease outbreaksVirus Evolution201687
15Introduction of molecular HPV testing as the primary technology in cervical cancer screening: Acting on evidence to change the current paradigmPreventive Medicine201787
16BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromesNature Communications201883
17The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significanceEpigenetics201779
18Osteopontin lung gene expression is a marker of disease severity in pulmonary arterial hypertensionRespirology201976
19LY6E Restricts Entry of Human Coronaviruses, Including Currently Pandemic SARS-CoV-2Journal of Virology202073
20Kaempferol attenuates hyperglycemia-induced cardiac injuries by inhibiting inflammatory responses and oxidative stressEndocrine201872
21Clinical utility of next‐generation sequencing in the diagnosis of hereditary haemolytic anaemiasBritish Journal of Haematology201671
22Clinical consequences of upfront pathology review in the randomised PORTEC-3 trial for high-risk endometrial cancerAnnals of Oncology201871
23Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeClinical Epigenetics201971
24Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1Genome Biology201966
25Inhibition of epidermal growth factor receptor attenuates atherosclerosis via decreasing inflammation and oxidative stressScientific Reports201765
26Ectomesenchymal Chondromyxoid TumorAmerican Journal of Surgical Pathology201860
27The Khorana score for prediction of venous thromboembolism in cancer patients: An individual patient data meta‐analysisJournal of Thrombosis and Haemostasis202060
28Lentivirus-mediated gene therapy for Fabry diseaseNature Communications202158
29Polycomb Repressive Complex 2 Regulates MiR-200b in Retinal Endothelial Cells: Potential Relevance in Diabetic RetinopathyPLoS ONE201558
30The defining DNA methylation signature of Floating-Harbor SyndromeScientific Reports201655
31Phylogenetic Tools for Generalized HIV-1 Epidemics: Findings from the PANGEA-HIV Methods ComparisonMolecular Biology and Evolution201753
32A genome-wide DNA methylation signature for SETD1B-related syndromeClinical Epigenetics201948
33Bat SARS-Like WIV1 coronavirus uses the ACE2 of multiple animal species as receptor and evades IFITM3 restriction via TMPRSS2 activation of membrane fusionEmerging Microbes and Infections202048
34Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel AnalysisJournal of Molecular Diagnostics201647
35miR-146a regulates glucose induced upregulation of inflammatory cytokines extracellular matrix proteins in the retina and kidney in diabetesPLoS ONE201744
36The Long Non-Coding RNA HOTAIR Is a Critical Epigenetic Mediator of Angiogenesis in Diabetic Retinopathy202144
37ANRIL regulates production of extracellular matrix proteins and vasoactive factors in diabetic complicationsAmerican Journal of Physiology - Endocrinology and Metabolism201843
3842936 pathogens from Canadian hospitals: 10 years of results (2007–16) from the CANWARD surveillance studyJournal of Antimicrobial Chemotherapy201943
39Epithelioid and spindle cell rhabdomyosarcoma with FUS-TFCP2 or EWSR1-TFCP2 fusion: report of two casesVirchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin202042
40Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersHuman Genetics and Genomics Advances202242
41Glypican-1 and glycoprotein 2 bearing extracellular vesicles do not discern pancreatic cancer from benign pancreatic diseasesOncotarget201941
42Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureClinical Epigenetics202040
43Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking KnownBRCAMutationsHuman Mutation201639
44Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting DisordersJournal of Molecular Diagnostics201739
45Genetic Cluster Analysis for HIV PreventionCurrent HIV/AIDS Reports201839
46Circular RNA in colorectal cancerJournal of Cellular and Molecular Medicine202139
47p53 immunohistochemistry in endometrial cancer: clinical and molecular correlates in the PORTEC-3 trialModern Pathology202239
48Costunolide specifically binds and inhibits thioredoxin reductase 1 to induce apoptosis in colon cancerCancer Letters201838
49Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate TissuesFrontiers in Oncology201838
50Kaempferol reduces K63-linked polyubiquitination to inhibit nuclear factor-κB and inflammatory responses in acute lung injury in miceToxicology Letters201938