List of works - Michael J. Ombrello

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

scientific article

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers

scientific article published on 23 May 2016

Advances in the genetically complex autoinflammatory diseases

scientific article

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity

scientific article

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

scientific article published on 23 May 2017

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls.

scientific article

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

scientific article published on 11 January 2012

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

scientific article

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

scientific article published on 11 March 2015

Distinct transcriptome profiles differentiate nonsteroidal anti-inflammatory drug-dependent from nonsteroidal anti-inflammatory drug-independent food-induced anaphylaxis.

scientific article

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics

scientific article

Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease.

scientific article published on 6 October 2016

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

scientific journal article

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

scientific article

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

scientific article

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

HOIL and water: the two faces of HOIL-1 deficiency

scientific article published on 01 December 2012

Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk.

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

scientific article

List of works by Michael J. Ombrello

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers

Advances in the genetically complex autoinflammatory diseases

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

Distinct transcriptome profiles differentiate nonsteroidal anti-inflammatory drug-dependent from nonsteroidal anti-inflammatory drug-independent food-induced anaphylaxis.

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics

Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

HOIL and water: the two faces of HOIL-1 deficiency

Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease