Detalhe da pesquisa
1.
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.
Nat Immunol
; 20(10): 1299-1310, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534238
2.
A cell-based functional assay that accurately links genotype to phenotype in familial HLH.
Blood
; 141(19): 2330-2342, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706356
3.
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR).
J Clin Immunol
; 44(1): 38, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165470
4.
Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.
Rheumatology (Oxford)
; 63(3): 882-890, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481715
5.
SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.
Proc Natl Acad Sci U S A
; 118(34)2021 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417303
6.
The FOXP3 full-length isoform controls the lineage-stability of CD4+FOXP3+ regulatory T cells.
Clin Immunol
; 237: 108957, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35247545
7.
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
J Clin Immunol
; 42(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657245
8.
COVID-19 in children. II: Pathogenesis, disease spectrum and management.
J Paediatr Child Health
; 58(1): 46-53, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694037
9.
COVID-19 in children: I. Epidemiology, prevention and indirect impacts.
J Paediatr Child Health
; 58(1): 39-45, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34643307
10.
Supporting Aboriginal and Torres Strait Islander Families to Stay Together from the Start (SAFeST Start): Urgent call to action to address crisis in infant removals.
Aust J Soc Issues
; 57(2): 252-273, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35910416
11.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
J Clin Immunol
; 41(8): 1915-1935, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657246
13.
Translational profiling of hypocretin neurons identifies candidate molecules for sleep regulation.
Genes Dev
; 27(5): 565-78, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23431030
14.
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
Int J Mol Sci
; 22(10)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070208
15.
Mental health and well-being of Aboriginal and Torres Strait Islander peoples in Australia during COVID-19.
Aust J Soc Issues
; 56(4): 485-502, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34898755
16.
The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery.
J Clin Immunol
; 40(5): 763-766, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483663
17.
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
J Clin Immunol
; 40(2): 299-309, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865525
18.
Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand.
J Paediatr Child Health
; 56(10): 1508-1513, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099818
19.
Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.
J Allergy Clin Immunol
; 143(1): 276-291.e6, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29800648
20.
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
J Allergy Clin Immunol
; 144(1): 236-253, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30738173