Detalhe da pesquisa
1.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(2): 282-293, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38172257
2.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(4): 717, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347083
3.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
N Engl J Med
; 389(6): 527-539, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342957
4.
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Blood
; 142(9): 827-845, 2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249233
5.
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
J Allergy Clin Immunol
; 152(4): 1025-1031.e2, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364720
6.
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Br J Haematol
; 203(4): 678-683, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646304
7.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845957
8.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
9.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
10.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
J Clin Immunol
; 42(3): 582-596, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028801
11.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood
; 136(23): 2638-2655, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603431
12.
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Allergy
; 77(3): 1004-1019, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287962
13.
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
J Clin Immunol
; 41(1): 59-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025377
14.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
J Clin Immunol
; 41(6): 1272-1290, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33929673
15.
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Nucleic Acids Res
; 45(W1): W567-W572, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28520890
16.
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.
J Allergy Clin Immunol
; 142(5): 1589-1604.e11, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751004
17.
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Br J Haematol
; 182(2): 251-258, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797310
18.
Polymerase-δ-deficiency as a novel cause of inborn cancer predisposition associated with human papillomavirus infection.
Br J Dermatol
; 188(5): 684-685, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787285
19.
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
J Hum Genet
; 61(6): 571-3, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888483
20.
ImmunExplorer (IMEX): a software framework for diversity and clonality analyses of immunoglobulins and T cell receptors on the basis of IMGT/HighV-QUEST preprocessed NGS data.
BMC Bioinformatics
; 16: 252, 2015 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264428