Detalhe da pesquisa
1.
Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.
Hum Genomics
; 18(1): 30, 2024 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38523294
2.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 104(6): 1182-1201, 2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31130284
3.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33764426
4.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30237576
5.
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Genet Med
; 20(3): 380, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29300385
6.
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Hum Genomics
; 11(1): 28, 2017 Nov 14.
Artigo
Inglês
| MEDLINE | ID: mdl-29137650
7.
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Hum Genomics
; 11(1): 33, 2017 12 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29221463
8.
Identification of a novel genetic locus underlying tremor and dystonia.
Hum Genomics
; 11(1): 25, 2017 11 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29110692
9.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28600779
10.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 105(4): 879, 2019 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31585110
11.
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Genet Med
; 19(10): 1144-1150, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28383543
12.
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Hum Genomics
; 10(1): 32, 2016 Sep 27.
Artigo
Inglês
| MEDLINE | ID: mdl-27671536
13.
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.
Case Rep Genet
; 2024: 5906936, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38204468
14.
The clinical utility of rapid exome sequencing in a consanguineous population.
Genome Med
; 15(1): 44, 2023 06 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37344829
15.
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
PLoS One
; 17(1): e0263137, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35089958
16.
Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel.
J Clin Endocrinol Metab
; 105(10)2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32556222
17.
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.
Sci Rep
; 9(1): 3344, 2019 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30833663
18.
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
Sci Rep
; 7(1): 5679, 2017 07 18.
Artigo
Inglês
| MEDLINE | ID: mdl-28720891