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
em Inglês
| MEDLINE | ID: mdl-38523294
2.
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Hum Genet
; 141(1): 101-126, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34853893
3.
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.
Am J Hum Genet
; 104(6): 1202-1209, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079898
4.
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
em Inglês
| MEDLINE | ID: mdl-31130284
5.
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Hum Genomics
; 15(1): 52, 2021 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380564
6.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764426
7.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet
; 102(5): 858-873, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727687
8.
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
Hepatology
; 71(6): 2067-2079, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595528
9.
PLACK syndrome is potentially treatable with intralipids.
Clin Genet
; 99(4): 572-576, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410500
10.
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Clin Genet
; 99(5): 724-731, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506509
11.
Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation.
Curr Rheumatol Rep
; 23(8): 64, 2021 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216291
12.
ß1 Integrin is essential for fascin-mediated breast cancer stem cell function and disease progression.
Int J Cancer
; 145(3): 830-841, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719702
13.
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Genet Med
; 21(1): 185-188, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29892088
14.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
15.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561787
16.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Brain
; 141(7): 1934-1945, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29868776
17.
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 137(1): 105-109, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29288388
18.
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Genet Med
; 20(3): 380, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300385
19.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
20.
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
BMC Med Genet
; 19(1): 115, 2018 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29996815