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Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

Frontiers in immunology, 2018-02, Vol.9, p.369-369

2018

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Reevaluation of SNP heritability in complex human traits

Nature genetics, 2017-07, Vol.49 (7), p.986-992

2017

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Topoisomerase 2β and DNA topology during B cell development

Frontiers in immunology, 2022-08, Vol.13, p.982870-982870

2022

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Evolution and transmission of drug-resistant tuberculosis in a Russian population

Nature genetics, 2014-03, Vol.46 (3), p.279-286

2014

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Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Science (American Association for the Advancement of Science), 2018-08, Vol.361 (6404), p.810-813

2018

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Bioinformatics, 2012-11, Vol.28 (21), p.2747-2754

2012

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Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Nature communications, 2016-12, Vol.7 (1), p.13992-12, Article 13992

2016

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Microevolution of extensively drug-resistant tuberculosis in Russia

Genome research, 2012-04, Vol.22 (4), p.735-745

2012

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PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner

Nature communications, 2018-08, Vol.9 (1), p.3174-16, Article 3174

2018

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Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

Frontiers in immunology, 2018-12, Vol.9, p.2863

2018

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Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians

Nature communications, 2019-08, Vol.10 (1), p.3765-10, Article 3765

2019

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LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Journal of allergy and clinical immunology, 2012-12, Vol.130 (6), p.1428-1432

2012

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Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

Journal of allergy and clinical immunology, 2014-07, Vol.134 (1), p.233-236.e3

2014

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Down-regulation of NKG2D and NKp80 ligands by Kaposi's sarcoma-associated herpesvirus K5 protects against NK cell cytotoxicity

Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (5), p.1656-1661

2008

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Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis

PLoS genetics, 2008-10, Vol.4 (10), p.e1000218-e1000218

2008

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A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians

BMC medical genetics, 2012-01, Vol.13 (1), p.5-5, Article 5

2012

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Association of the Vitamin D Metabolism Gene CYP27B1 With Type 1 Diabetes

Diabetes (New York, N.Y.), 2007-10, Vol.56 (10), p.2616-2621

2007

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Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ ( IL2RG ) gene promoter

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.940-942.e4

2016

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Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

Journal of allergy and clinical immunology, 2014-07, Vol.134 (1), p.215-218.e3

2014

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Comprehensive Association Analysis of the Vitamin D Pathway Genes, VDR, CYP27B1, and CYP24A1, in Prostate Cancer

Cancer epidemiology, biomarkers & prevention, 2007-10, Vol.16 (10), p.1990-1999

2007

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Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene

Human molecular genetics, 2004-08, Vol.13 (15), p.1633-1639

2004

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PI3Kδ and primary immunodeficiencies

Nature reviews. Immunology, 2016-11, Vol.16 (11), p.702-714

2016

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Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

Science (American Association for the Advancement of Science), 2009-04, Vol.324 (5925), p.387-389

2009

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Sequencing-Based Genotyping and Association Analysis of the MICA and MICB Genes in Type 1 Diabetes

Diabetes (New York, N.Y.), 2008-06, Vol.57 (6), p.1753-1756

2008

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Analysis of the Vitamin D Receptor Gene Sequence Variants in Type 1 Diabetes

Diabetes (New York, N.Y.), 2004-10, Vol.53 (10), p.2709-2712

2004

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Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

Reevaluation of SNP heritability in complex human traits

Topoisomerase 2β and DNA topology during B cell development

Evolution and transmission of drug-resistant tuberculosis in a Russian population

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Microevolution of extensively drug-resistant tuberculosis in Russia

PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

Down-regulation of NKG2D and NKp80 ligands by Kaposi's sarcoma-associated herpesvirus K5 protects against NK cell cytotoxicity

Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis

A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians

Association of the Vitamin D Metabolism Gene CYP27B1 With Type 1 Diabetes

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ ( IL2RG ) gene promoter

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

Comprehensive Association Analysis of the Vitamin D Pathway Genes, VDR, CYP27B1, and CYP24A1, in Prostate Cancer

Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene

PI3Kδ and primary immunodeficiencies

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

Sequencing-Based Genotyping and Association Analysis of the MICA and MICB Genes in Type 1 Diabetes

Analysis of the Vitamin D Receptor Gene Sequence Variants in Type 1 Diabetes

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