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Utility of clinical exome sequencing in a complex Emirati pediatric cohort
(2020)
Abstract: Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the ...
Effect of Common Medications on the Expression of SARS-CoV-2 Entry Receptors in Kidney Tissue
(2020)
Abstract: Besides the respiratory system, severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection was shown to affect other essential organs such as the kidneys. Early kidney involvement during the course ...
SARS-CoV-2 Whole Genome Amplification and Sequencing for Effective Population-Based Surveillance and Control of Viral Transmission
(2020)
BACKGROUND:
With the gradual reopening of economies and resumption of social life, robust surveillance mechanisms should be implemented to control the ongoing COVID-19 pandemic. Unlike RT-qPCR, SARSCoV- 2 whole genome ...
Regulation of Angiotensin- Converting Enzyme 2 in Obesity: Implications for COVID-19
(2020)
Abstract:
The ongoing COVID-19 pandemic is caused by the novel coronavirus SARS-CoV-2. Age, smoking, obesity, and chronic diseases such as cardiovascular disease and diabetes have been described as risk factors for severe ...
Multiple early introductions of SARS‑CoV‑2 into a global travel hub in the Middle East
(2020)
Abstract:
International travel played a significant role in the early global spread of SARS-CoV-2. Understanding transmission patterns from different regions of the world will further inform global dynamics of the pandemic. ...
Case Report: CMV-Associated Congenital Nephrotic Syndrome
(2020)
Background:
Congenital nephrotic syndrome, historically defined by the onset of large proteinuria during the first 3 months of life, is a rare clinical disorder, generally with poor outcome. It is caused by pathogenic ...
The Genomic Landscape of Pediatric Rheumatology Disorders in the Middle East
(2020)
Abstract:
Genetic investigations for patients with pediatric rheumatological disorders have been limited to classic genotyping testing, mainly MEFV hotspot mutation analysis, for periodic fever. Therefore, the landscape ...
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
(2020)
Purpose:
Neurodevelopmental disorders represent a frequent indication for clinical exome sequencing. Fifty percent of cases, however, remain undiagnosed even upon exome reanalysis. Here we show RNA sequencing (RNA-seq) ...