Detalhe da pesquisa
1.
Sensory neurons promote immune homeostasis in the lung.
Cell
; 187(1): 44-61.e17, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38134932
2.
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Blood
; 140(17): 1858-1874, 2022 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789258
3.
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Am J Med Genet A
; 194(6): e63548, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264805
4.
Early prediction of pediatric asthma in the Canadian Healthy Infant Longitudinal Development (CHILD) birth cohort using machine learning.
Pediatr Res
; 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38212387
5.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189
6.
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Am J Med Genet A
; 191(8): 2219-2224, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196051
7.
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
; 188(10): 3089-3095, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946377
8.
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
BMC Pediatr
; 21(1): 45, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472608
9.
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
J Clin Immunol
; 40(2): 267-276, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31853824
10.
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Clin Immunol
; 175: 143-146, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28043923
11.
Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation.
Clin Immunol
; 168: 1-5, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27109639
12.
IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae.
Clin Immunol
; 163: 14-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26698383
13.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
HGG Adv
; 5(1): 100259, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041405
14.
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
J Allergy Clin Immunol
; 139(6): 2016-2020.e5, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111307
15.
Delayed gut microbiota maturation in the first year of life is a hallmark of pediatric allergic disease.
Nat Commun
; 14(1): 4785, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644001
16.
Breastfeeding enrichment of B. longum subsp. infantis mitigates the effect of antibiotics on the microbiota and childhood asthma risk.
Med
; 4(2): 92-112.e5, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603585
17.
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Sci Immunol
; 8(79): eade7953, 2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662884
18.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
J Exp Med
; 220(5)2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36884218
19.
Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Eur J Med Genet
; 65(3): 104427, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063693
20.
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
JCI Insight
; 7(24)2022 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36546480