Detalhe da pesquisa
1.
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.
Nat Immunol
; 21(1): 86-100, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844327
2.
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Nat Immunol
; 20(3): 350-361, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718914
3.
Themis2 lowers the threshold for B cell activation during positive selection.
Nat Immunol
; 18(2): 205-213, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27992403
4.
Prolidase Deficiency Causes Spontaneous T Cell Activation and Lupus-like Autoimmunity.
J Immunol
; 210(5): 547-557, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637239
5.
An ontogenetic switch drives the positive and negative selection of B cells.
Proc Natl Acad Sci U S A
; 117(7): 3718-3727, 2020 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32019891
6.
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
Proc Natl Acad Sci U S A
; 113(26): E3706-15, 2016 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27303042
7.
Interventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
; 7: CD012380, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28672087
8.
Interventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
; 2016(10)2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28344511
9.
Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations.
PLoS Genet
; 9(1): e1003219, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23382690
10.
Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.
Mamm Genome
; 26(9-10): 486-500, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26449678
11.
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
J Pathol
; 233(1): 18-26, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24293254
12.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251
13.
Determining the Relationship Between Blood Pressure, Kidney Function, and Chronic Kidney Disease: Insights From Genetic Epidemiology.
Hypertension
; 79(12): 2671-2681, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082669
14.
NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance.
Commun Biol
; 5(1): 1216, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357486
15.
VEGF regulates local inhibitory complement proteins in the eye and kidney.
J Clin Invest
; 127(1): 199-214, 2017 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27918307
16.
B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A.
J Exp Med
; 210(1): 31-40, 2013 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23267016