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Genetic contributions to autism spectrum disorder
(2021)
Abstract:
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental conditions characterized by early childhood-onset impairments in communication and social interaction alongside restricted and ...
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
(2021)
Abstract:
Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted wholeexome sequencing (WES) and identified underlying pathogenic or likely pathogenic ...
Genotype-phenotype correlation identified a novel SARS-CoV-2 variant possibly linked to severe disease
(2021)
Abstract:
The geographic location and heterogeneous multi-ethnic population of Dubai (United Arab Emirates; UAE) provide a unique setting to explore the global molecular epidemiology of SARS-CoV-2 and relationship between ...
Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes
(2021)
Abstract:
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis and management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal ...
Single-cell transcriptome identifes molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
(2021)
Background:
In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discov ered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly ...
SARS-CoV-2 may hijack GPCR signaling pathways to dysregulate lung ion and fluid transport
(2021)
Abstract:
The tropism of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a virus responsible for the ongoing coronavirus disease 2019 (COVID-19) pandemic, toward the host cells is determined, at least in ...
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
(2021)
Abstract:
The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic ...
Reply to Eisenhut
(2021)
Letter to the Editor:
The Pathophysiology of COVID-19 and SARS-CoV-2 Infection
Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19
(2021)
Summary:
Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue specimens from patients with life-threatening ...