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Author Details

Henry Y Lu
2016
22
10
PMIDPaper TitleJournal TitlePublished Year
36662884A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.Sci Immunol2023
36907604Fetal Hemoglobin Regulation in Beta-Thalassemia.Hematol Oncol Clin North Am2023
37316189Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.J Med Genet2023
36993312Genetic regulation of fetal hemoglobin across global populations.medRxiv2023
35789258Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.Blood2022
36147669Integrating knowledge of protein sequence with protein function for the prediction and validation of new MALT1 substrates.Comput Struct Biotechnol J2022
34428518Inborn errors of immunity manifesting as atopic disorders.Journal of Allergy and Clinical Immunology2021
33472608Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.BMC Pediatrics2021
33872653Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.J Allergy Clin Immunol2021
33714841Human MALT1 deficiency and predisposition to infections.2021
34721419MALT1-Dependent Cleavage of HOIL1 Modulates Canonical NF-κB Signaling and Inflammatory Responsiveness.Front Immunol2021
34887873A Novel Germline Heterozygous <i>BCL11B</i> Variant Causing Severe Atopic Disease and Immune Dysregulation.Front Immunol2021
32532880Clinical IRAK4 deficiency caused by homozygosity for the novel (c.1049delG, p.Gly350Glufs*15) variant.Cold Spring Harbor molecular case studies2020
31853824A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.J Clin Immunol2020
31060714Germline CBM-opathies: From immunodeficiency to atopy.Journal of Allergy and Clinical Immunology2019
30597258Size-dependent anti-inflammatory activity of a peptide-gold nanoparticle hybrid in vitro and in a mouse model of acute lung injury.2019
29808493The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.Pediatric Allergy and Immunology2018
30283440The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.Front Immunol2018
29415982Combination therapy with proteasome inhibitors and TLR agonists enhances tumour cell death and IL-1β production.Cell Death and Disease2018
28747751Monogenic immune disorders and severe atopic disease.Nature Genetics2017
28900238Limitations of Qdot labelling compared to directly-conjugated probes for single particle tracking of B cell receptor mobility.Scientific Reports2017
27828362Real-time 3D stabilization of a super-resolution microscope using an electrically tunable lens.Optics Express2016
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