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Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome
(2022)
Abstract:
Genetic variation in populations of Middle Eastern origin remains highly underrepresented in most comprehensive genomic databases. This underrepresentation hampers the functional annotation of the human genome ...
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
(2022-07)
Abstract:
Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined ...
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
(2022)
Abstract:
Copy number variations (CNVs) are highly implicated in the etiology of neurodevelopmental disorders (NDDs), and chromosomal microarray analysis (CMA) has been recommended as a frst-tier test for many NDDs. We ...
Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children
(2022)
Importance:
Clinical, genetic, and laboratory characteristics of Middle Eastern patients with multisystem in‐ flammatory syndrome in children (MIS-C) have not yet been documented.
Objective:
To assess the genetic and ...