A5023810545- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Cellular transport and secretion
- Prenatal Screening and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Fetal and Pediatric Neurological Disorders
- Immunodeficiency and Autoimmune Disorders
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Peroxisome Proliferator-Activated Receptors
- Renal and related cancers
- Muscle Physiology and Disorders
- Connective tissue disorders research
- Nuclear Structure and Function
- Cardiomyopathy and Myosin Studies
Sultan Qaboos University Hospital
2012-2024
Sultan Qaboos University
2007-2024
Hospital for Sick Children
2011-2020
University of Toronto
2011-2016
SickKids Foundation
2011-2016
Boston Children's Hospital
2015
Howard Hughes Medical Institute
2015
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2015
Despite recent advances in understanding the genetic bases of microcephaly, a large number cases microcephaly remain unexplained, suggesting that many syndromes and associated genes have yet to be identified. Here, we report mutations PYCR2, which encodes an enzyme proline biosynthesis pathway, as cause unique syndrome characterized by postnatal hypomyelination, reduced cerebral white-matter volume. Linkage mapping whole-exome sequencing identified homozygous (c.355C>T [p.Arg119Cys] c.751C>T...
Recently, with the advancement in next generation sequencing (NGS) along improvement of bioinformatics tools, whole exome (WES) has become most efficient diagnostic test for patients intellectual disability (ID). This study aims to estimate yield a reanalysis ID negative cases after data reannotation. Total 50 files sequencing, representing samples were collected. The inclusion criteria include phenotype, and previous analysis indicated result (no abnormality detected). These pre-processed...
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group neurodegenerative diseases that may be divided into 'pure HSP' in forms disease primarily entailing progressive lower-limb weakness and spasticity, 'complex when these features accompanied by other neurological (or non-neurological) clinical signs. Here, we identified biallelic variants transmembrane protein 63C (TMEM63C) gene, encoding predicted...
Exome sequencing identified homozygous loss‐of‐function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) four affected individuals from two unrelated consanguineous families. The our report were diagnosed with postnatal microcephaly, early‐onset epilepsy, severe vision impairment, pulmonary symptoms including bronchiectasis recurrent respiratory infections. A heterozygous mutation was originally reported one family autosomal dominant deafness. Recently, however, a...
Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection appropriate clinical and genetic tests for patients poses diagnostic challenge. Neuroimaging is crucial initial investigation in the evaluation ataxia childhood, presence helps guide further investigations. We performed detailed review 300 confirmed on magnetic resonance imaging over 10-year period. A diagnosis was established 47% patients: Mitochondrial disorders were most common,...
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized impairments in cognition, communication, behavior, or motor skills. In past few years, whole-exome sequencing (WES) has been proven be a powerful, robust, scalable approach for candidate gene discoveries consanguineous populations. this study, we recruited 215 patients affected with ID from 118 Middle Eastern families....
Aminoacyl-tRNA synthetases (ARSs) canonical function is to conjugate specific amino acids cognate tRNA that are required for the first step of protein synthesis. Genetic mutations cause dysfunction or absence ARSs result in various neurodevelopmental disorders. The human phenylalanine-tRNA synthetase (PheRS) a tetrameric made two subunits coded by FARSA gene and FARSB gene. We describe eight affected individuals from an extended family with multisystemic recessive disease manifest as...
Abstract Cardiomyopathies are clinically heterogeneous disorders and the leading cause of cardiovascular morbidity mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss‐of‐function pathogenic variants in alpha‐kinase 3 ( ALPK3 ) were implicated causing early‐onset pediatric cardiomyopathy (cardiomyopathy, familial hypertrophic 27; OMIM 618052). To date, eight patients, all presented during early childhood, reported with variants. We describe...
The RNA exosome is an evolutionarily conserved complex required for both precise processing and decay. Pathogenic variants in EXOSC genes, which encode structural subunits of this complex, are linked to several autosomal recessive disorders. Here, we describe a missense allele the EXOSC4 gene that causes collection clinical features two affected siblings. This variant (NM_019037.3: exon3:c.560T>C) changes leucine residue within region proline (p.Leu187Pro). individuals show prenatal growth...
There is a dearth of studies examining the relationship between research output and other socio-demographic indicators in Gulf Cooperation Council (GCC) countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, United Arab Emirates). The three interrelated aims this study were, first, to ascertain number biomedical publications GCC from 1970 2010; second, establish rate publication according population size during same period and, third, gauge specific socio-economic parameters.The Medline...
FBXO22 encodes an F-box protein which acts as a substrate-recognition component of the SKP1-CUL1-F-box (SCF) E3 ubiquitin ligase complex. Despite its known roles in post-translational ubiquitination and degradation specific substrates, including histone demethylases, impact on human development remains unknown. Here, we characterize pleiotropic syndrome with prominent prenatal onset growth restriction notable neurodevelopmental delay across 14 cases from 12 families. Through exome genome...