[HTML][HTML] Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families
AM Alazami, N Patel, HE Shamseldin, S Anazi… - Cell reports, 2015 - cell.com
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …
[HTML][HTML] The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
D Monies, M Abouelhoda, M AlSayed, Z Alhassnan… - Human genetics, 2017 - Springer
In this study, we report the experience of the only reference clinical next-generation
sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of …
sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of …
[PDF][PDF] Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
V Massa, E Fernandez-Vizarra, S Alshahwan… - The American Journal of …, 2008 - cell.com
Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects
in humans, has been associated with mutations in either mitochondrial DNA genes or …
in humans, has been associated with mutations in either mitochondrial DNA genes or …
[HTML][HTML] Characterizing the morbid genome of ciliopathies
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …
progress has been made in understanding the molecular basis of these genetically …
Genomic and phenotypic delineation of congenital microcephaly
Purpose Congenital microcephaly (CM) is an important birth defect with long term
neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of …
neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of …
[HTML][HTML] Autozygome and high throughput confirmation of disease genes candidacy
S Maddirevula, F Alzahrani, M Al-Owain… - Genetics in …, 2019 - nature.com
Abstract Purpose Establishing links between Mendelian phenotypes and genes enables the
proper interpretation of variants therein. Autozygome, a rich source of homozygous variants …
proper interpretation of variants therein. Autozygome, a rich source of homozygous variants …
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …
Treatment of biotin-responsive basal ganglia disease: open comparative study between the combination of biotin plus thiamine versus thiamine alone
B Tabarki, M Alfadhel, S AlShahwan… - european journal of …, 2015 - Elsevier
Objective To compare the combination of biotin plus thiamine to thiamine alone in treating
patients with biotin-responsive basal ganglia disease in an open-label prospective …
patients with biotin-responsive basal ganglia disease in an open-label prospective …
Congenital disorders of glycosylation: the Saudi experience
S Alsubhi, A Alhashem, E Faqeih… - American journal of …, 2017 - Wiley Online Library
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation
(CDG). Twenty‐seven Saudi patients (14 males, 13 females) from 13 unrelated families …
(CDG). Twenty‐seven Saudi patients (14 males, 13 females) from 13 unrelated families …
Severe CNS involvement in WWOX mutations: Description of five new cases
B Tabarki, A AlHashem, S AlShahwan… - American Journal of …, 2015 - Wiley Online Library
Recently, mutations in WWOX have been identified in the setting of central nervous system
(CNS) disorders, highlighting a previously unrevealed role of this gene in the normal …
(CNS) disorders, highlighting a previously unrevealed role of this gene in the normal …