Detalhe da pesquisa
1.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Nature
; 607(7917): 97-103, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35255492
2.
Germline Mutations in CIDEB and Protection against Liver Disease.
N Engl J Med
; 387(4): 332-344, 2022 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35939579
3.
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Am J Hum Genet
; 108(7): 1350-1355, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115965
4.
Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
J Mol Cell Cardiol
; 180: 69-83, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37187232
5.
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Circulation
; 145(12): 877-891, 2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930020
6.
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
Kidney Int
; 103(3): 607-615, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574950
7.
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Genet Epidemiol
; 45(6): 664-681, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184762
8.
Gi-coupled receptor activation potentiates Piezo2 currents via Gßγ.
EMBO Rep
; 21(5): e49124, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227462
9.
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
JAMA
; 328(24): 2412-2421, 2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36573973
10.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562163
11.
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Int J Obes (Lond)
; 45(1): 155-169, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32952152
12.
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genet Med
; 23(12): 2386-2393, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326492
13.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
J Am Soc Nephrol
; 30(11): 2091-2102, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395617
14.
Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.
Genet Med
; 21(6): 1417-1424, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449888
15.
Cilia have high cAMP levels that are inhibited by Sonic Hedgehog-regulated calcium dynamics.
Proc Natl Acad Sci U S A
; 113(46): 13069-13074, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799542
16.
CCL20 is up-regulated in non-alcoholic fatty liver disease fibrosis and is produced by hepatic stellate cells in response to fatty acid loading.
J Transl Med
; 16(1): 108, 2018 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29690903
17.
A conserved mechanism for gating in an ionotropic glutamate receptor.
J Biol Chem
; 288(26): 18842-52, 2013 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23671286
18.
Weight-independent effects of roux-en-Y gastric bypass on glucose homeostasis via melanocortin-4 receptors in mice and humans.
Gastroenterology
; 144(3): 580-590.e7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159449
19.
Whole-Exome Sequencing in Adults With Chronic Kidney Disease.
Ann Intern Med
; 169(2): 131-132, 2018 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014106
20.
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Nat Genet
; 56(5): 827-837, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632349