User profiles for Amal Kentab
Amal KentabKing Saud University Verified email at ksu.edu.sa Cited by 2325 |
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families
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 …
[PDF][PDF] Human mutations in NDE1 cause extreme microcephaly with lissencephaly
…, BJ Barry, JN Partlow, GG Gascon, A Kentab… - The American Journal of …, 2011 - cell.com
Genes disrupted in human microcephaly (meaning "small brain") define key regulators of
neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in …
neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in …
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
…, MA Aldahmesh, JY Mohamed, A Kentab… - Journal of medical …, 2013 - jmg.bmj.com
Background Intellectual disability (ID) is one of the most common forms of disability worldwide,
displaying a wide range of aetiologies and affecting nearly 2% of the global population. …
displaying a wide range of aetiologies and affecting nearly 2% of the global population. …
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Objective To investigate the utility of autozygome analysis and exome sequencing in a
cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. Methods …
cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. Methods …
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective
tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting …
tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting …
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 patients …
sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients …
Autozygome and high throughput confirmation of disease genes candidacy
…, A Qari, SM Al Tala, S Alhomaidi, AY Kentab… - Genetics in …, 2019 - nature.com
Purpose Establishing links between Mendelian phenotypes and genes enables the proper
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
Background Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe
an apparently novel syndromic association with KFA. Methods Clinical phenotyping of two …
an apparently novel syndromic association with KFA. Methods Clinical phenotyping of two …
New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal
dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron …
dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron …
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy
Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans.
Only 2 epilepsy patients to date have been reported to have recessive mutations in SCN1B as …
Only 2 epilepsy patients to date have been reported to have recessive mutations in SCN1B as …