Detalhe da pesquisa
1.
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.
Cell
; 185(26): 4937-4953.e23, 2022 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563664
2.
Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution.
Cell
; 184(19): 5053-5069.e23, 2021 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390642
3.
Phase 3 randomized trial of mavorixafor, CXCR4 antagonist, in WHIM syndrome.
Blood
; 2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643510
4.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194689
5.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
6.
A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.
Blood
; 141(9): 971-983, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399712
7.
Dissecting thrombus-directed chemotaxis and random movement in neutrophil near-thrombus motion in flow chambers.
BMC Biol
; 22(1): 115, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38764040
8.
Interim analysis: Open-label extension study of leniolisib for patients with APDS.
J Allergy Clin Immunol
; 153(1): 265-274.e9, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37797893
9.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
10.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
J Clin Immunol
; 44(4): 93, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578360
11.
Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.
Proc Natl Acad Sci U S A
; 118(15)2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833053
12.
AP-1 is a temporally regulated dual gatekeeper of reprogramming to pluripotency.
Proc Natl Acad Sci U S A
; 118(23)2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34088849
13.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
J Allergy Clin Immunol
; 152(3): 771-782, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37150360
14.
Probing the diabetes and colorectal cancer relationship using gene - environment interaction analyses.
Br J Cancer
; 129(3): 511-520, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365285
15.
Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.
Br J Haematol
; 202(3): 645-656, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221654
16.
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation.
J Clin Immunol
; 43(6): 1241-1249, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009957
17.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
18.
Ex vivo observation of granulocyte activity during thrombus formation.
BMC Biol
; 20(1): 32, 2022 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35125118
19.
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
J Allergy Clin Immunol
; 150(4): 955-964.e16, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182547
20.
Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
J Allergy Clin Immunol
; 149(3): 1069-1084, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384840