Detalhe da pesquisa
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
2.
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning.
Bioinformatics
; 38(6): 1677-1684, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951628
3.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
4.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
5.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
6.
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Pediatr Nephrol
; 38(6): 1801-1810, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409364
7.
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Eur J Pediatr
; 182(6): 2535-2545, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928758
8.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952832
9.
Assessment of attitudes towards the use of preimplantation genetic diagnosis in a single center in Riyadh, Saudi Arabia.
J Genet Couns
; 32(5): 1032-1039, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005789
10.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101335
11.
The rate of secondary genomic findings in the Saudi population.
Am J Med Genet A
; 188(1): 83-88, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515413
12.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
13.
Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.
Genomics
; 113(4): 2495-2502, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022343
14.
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Hum Genet
; 140(8): 1143-1156, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974130
15.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
16.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
17.
Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.
Clin Genet
; 100(5): 601-606, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272725
18.
Molecular autopsy by proxy in preconception counseling.
Clin Genet
; 100(6): 678-691, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406647
19.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
20.
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
Ann Hum Genet
; 84(5): 370-379, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32401353