Detalhe da pesquisa
1.
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Cell
; 185(23): 4409-4427.e18, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368308
2.
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
BMC Nephrol
; 25(1): 139, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649831
3.
The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature.
J Transl Med
; 21(1): 171, 2023 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869348
4.
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
J Transl Med
; 20(1): 502, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329474
5.
Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.
J Transl Med
; 19(1): 137, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33794915
6.
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.
J Cell Mol Med
; 24(19): 11294-11306, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853466
7.
Burden of Mendelian disorders in a large Middle Eastern biobank.
Genome Med
; 16(1): 46, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38584274
8.
Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease.
Comput Struct Biotechnol J
; 21: 716-730, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36659918
9.
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
Genes (Basel)
; 14(4)2023 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107607
10.
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Genome Med
; 15(1): 81, 2023 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37805537
11.
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
F1000Res
; 11: 530, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36262335
12.
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank.
NPJ Genom Med
; 6(1): 8, 2021 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563995
13.
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.
Nat Commun
; 12(1): 5929, 2021 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642339
14.
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
NPJ Genom Med
; 6(1): 96, 2021 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34795304
15.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
F1000Res
; 10: 246, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621504