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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 ...
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
(2019)
Background:
Intellectual disability (ID) is a complex condition that can impact multiple domains of development. The genetic contribution to ID’s etiology is significant, with more than 100 implicated genes and loci ...
Artificial intelligence for precision medicine in neurodevelopmental disorders
(2019)
Abstract: The ambition of precision medicine is to design and optimize the pathway for diagnosis, therapeutic intervention, and prognosis by using large multidimensional biological datasets that capture individual variability ...
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
(2017-08-30)
Objective: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD).
Methods: Patients with STXBP1 ...
Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder
(2017-09)
Abstract: We systematically analyzed post-zygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and ...
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
(2017-11-09)
Background:
Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe ...
Serum sonic hedgehog (SHH) and interleukin-(IL-6) as dual prognostic biomarkers in progressive metastatic breast cancer
(2017-05-11)
Abstract:
Serum from one hundred and ten breast cancer patients and thirty healthy female volunteers, were prospectively collected and evaluated for serum levels of Shh and IL-6 using human Shh and IL-6 specific enzyme-linked ...
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
(2018-02-01)
Abstract:
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, ...