[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 …

[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 …

[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 …

[HTML][HTML] Characterizing the morbid genome of ciliopathies

R Shaheen, K Szymanska, B Basu, N Patel, N Ewida… - Genome biology, 2016 - Springer
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …

Genomic and phenotypic delineation of congenital microcephaly

R Shaheen, S Maddirevula, N Ewida, S Alsahli… - Genetics in …, 2019 - nature.com
Purpose Congenital microcephaly (CM) is an important birth defect with long term
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 …

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

A Alfares, M Alfadhel, T Wani, S Alsahli… - Molecular genetics and …, 2017 - Elsevier
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 …

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 …

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 …

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 …