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List of works by Sergey Nejentsev

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

scientific article

Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes

scientific article published in October 2004

Association of intercellular adhesion molecule-1 gene with type 1 diabetes

scientific article published on November 2003

Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

scientific article published on 2 July 2007

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

scientific article published on 19 July 2018

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

scientific article published on 21 April 2016

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

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

scientific article published on 30 October 2015

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

scientific article

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

scientific article published on 27 March 2014

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

scientific article

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

scientific article published on 14 September 2012

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

scientific article

No evidence for a major effect of two common polymorphisms of the catalase gene in type 1 diabetes susceptibility

article

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

scientific article

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

scientific article

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

scientific article

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

scientific article

Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11.

scientific article

Sequencing-based genotyping and association analysis of the MICA and MICB genes in type 1 diabetes.

scientific article

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