Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815931
2.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
3.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
J Med Genet
; 60(3): 294-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790350
4.
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
5.
Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.
Clin Genet
; 104(4): 497-498, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308312
6.
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
7.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212438
8.
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
J Hum Genet
; 66(7): 689-695, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500540
9.
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
J Hum Genet
; 66(2): 151-159, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32759993
10.
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Clin Genet
; 99(5): 694-703, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495992
11.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516855
12.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Genet Med
; 22(12): 2071-2080, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741967
13.
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Clin Genet
; 97(3): 447-456, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730227
14.
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Genet Med
; 20(5): 536-544, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29048421
15.
Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice.
Clin Chem
; 69(1): 21, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598550
16.
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
em Inglês
| MEDLINE | ID: mdl-31585110
17.
Commentary on Multiple Copy Number Variants Detected by Noninvasive Prenatal Screening.
Clin Chem
; 68(5): 633, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35584796
18.
IRF2BP2 Reduces Macrophage Inflammation and Susceptibility to Atherosclerosis.
Circ Res
; 117(8): 671-83, 2015 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26195219
19.
9p21.3 Coronary Artery Disease Risk Variants Disrupt TEAD Transcription Factor-Dependent Transforming Growth Factor ß Regulation of p16 Expression in Human Aortic Smooth Muscle Cells.
Circulation
; 132(21): 1969-78, 2015 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26487755
20.
A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis.
Clin Chem
; 67(6): 912-914, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35265964