Detalhe da pesquisa
1.
Non-genetic determinants of malignant clonal fitness at single-cell resolution.
Nature
; 601(7891): 125-131, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34880496
2.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A
; 116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591564
3.
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Mol Cell Proteomics
; 18(4): 760-772, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630937
4.
Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency.
J Clin Immunol
; 39(2): 207-215, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903457
5.
Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells.
J Clin Immunol
; 39(4): 391-400, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31025232
6.
Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
J Clin Immunol
; 38(6): 711, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30099695
7.
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
J Clin Immunol
; 38(6): 699-710, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030704
8.
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.
J Allergy Clin Immunol
; 140(4): 1112-1119, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28115216
9.
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.
Gastroenterology
; 156(1): 275-278, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267714
10.
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
BMJ Open
; 14(4): e081426, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569677
11.
Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.
Sci Rep
; 12(1): 3906, 2022 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35273242
12.
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
Clin EEG Neurosci
; 51(1): 61-69, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31554424
13.
Lymphocytic interstitial pneumonia and follicular bronchiolitis in children: A registry-based case series.
Pediatr Pulmonol
; 55(4): 909-917, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040879
14.
NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency.
Inflamm Bowel Dis
; 26(8): 1166-1176, 2020 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064493
15.
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
Nat Commun
; 11(1): 1031, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32098969
16.
Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
Nat Commun
; 11(1): 1963, 2020 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312977
17.
RET Solvent Front Mutations Mediate Acquired Resistance to Selective RET Inhibition in RET-Driven Malignancies.
J Thorac Oncol
; 15(4): 541-549, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988000
18.
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Inflamm Bowel Dis
; 25(11): 1788-1795, 2019 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115454
19.
An Evolutionarily Conserved Function of Polycomb Silences the MHC Class I Antigen Presentation Pathway and Enables Immune Evasion in Cancer.
Cancer Cell
; 36(4): 385-401.e8, 2019 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564637
20.
Human TGF-ß1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Nat Genet
; 50(3): 344-348, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483653