Detalhe da pesquisa
1.
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol
; 18(7): 813-823, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28530713
2.
Estimation of kinship coefficient in structured and admixed populations using sparse sequencing data.
PLoS Genet
; 13(9): e1007021, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961250
3.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359994
4.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
J Allergy Clin Immunol
; 133(5): 1400-9, 1409.e1-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24589341
5.
Measurement of ctDNA Tumor Fraction Identifies Informative Negative Liquid Biopsy Results and Informs Value of Tissue Confirmation.
Clin Cancer Res
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526394
6.
PFRED: A computational platform for siRNA and antisense oligonucleotides design.
PLoS One
; 16(1): e0238753, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33481821
7.
Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase.
Front Immunol
; 10: 2000, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31507602
8.
Physiochemical drug properties associated with in vivo toxicological outcomes.
Bioorg Med Chem Lett
; 18(17): 4872-5, 2008 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18691886
9.
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
J Mol Diagn
; 20(5): 686-702, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29936259
10.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
J Exp Med
; 214(7): 1949-1972, 2017 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28606988
11.
Mutation Detection in an Antibody-Producing Chinese Hamster Ovary Cell Line by Targeted RNA Sequencing.
Biomed Res Int
; 2016: 8356435, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27088091
12.
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
Nat Genet
; 48(12): 1564-1569, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27749843
13.
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Science
; 349(6246): 436-40, 2015 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206937
14.
Are protein-protein interfaces more conserved in sequence than the rest of the protein surface?
Protein Sci
; 13(1): 190-202, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14691234
15.
siRNA off-target effects can be reduced at concentrations that match their individual potency.
PLoS One
; 6(7): e21503, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750714