S. Nejentsev

S. Nejentsev, Y. Balabanova, F. Drobniewski, 2015, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

MCP-1 promoter variant 2362C associated with protection from pulmonary tuberculosis in Ghana,

S. Nejentsev, E. Owusu-Dabo, L. Zeitels, 2009 .

MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa.

S. Nejentsev, E. Owusu-Dabo, L. Zeitels, 2008, Human molecular genetics.

Genetics of susceptibility to tuberculosis in humans.

M. Newport, S. Nejentsev, 2004, Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace.

Immunode fi ciency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL 1

G. Charras, S. Nejentsev, V. Plagnol, 2022 .

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

Mair E. M. Thomas, S. Nejentsev, P. Lehner, 2008, Proceedings of the National Academy of Sciences.

PI3Kδ and primary immunodeficiencies

K. Okkenhaug, S. Nejentsev, A. Condliffe, 2016, Nature Reviews Immunology.

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

T. Molina, A. Fischer, S. Nejentsev, 2016, The Journal of allergy and clinical immunology.

Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome

A. Fischer, J. Casanova, S. Nejentsev, 2014, The Journal of allergy and clinical immunology.

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

S. Nejentsev, V. Plagnol, S. Burns, 2014, The Journal of allergy and clinical immunology.

Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two prospective cohort studies

S. Nejentsev, C. Allaart, W. Lems, 2022, The Lancet Rheumatology.

Topoisomerase 2β and DNA topology during B cell development

S. Nejentsev, O. Papapietro, Olivier Papapietro, 2022, Frontiers in Immunology.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Andrew J. Oler, Smita Y. Patel, Ivan K. Chinn, 2019, The Journal of allergy and clinical immunology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

Humoral responses after second and third SARS-CoV-2 vaccination in patients with immune-mediated inflammatory disorders on immunosuppressants: a cohort study

R. R. Hagen, S. Nejentsev, P. van Paassen, 2022, The Lancet Rheumatology.

No association between interferon-γ receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample

D. Kwiatkowski, J. Todd, M. Newport, 2004, Thorax.

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

Nicholas W. Wood, Adrian J. Thrasher, James Curtis, 2012, Bioinform..

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy.

J. Kere, D. Greco, S. Nejentsev, 2019, The Journal of allergy and clinical immunology.

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

G. Charras, S. Nejentsev, V. Plagnol, 2015, Blood.

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

Bodo Grimbacher, James Curtis, Siobhan O. Burns, 2017, The Journal of allergy and clinical immunology.

Variants in STXBP3 Are Associated With Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Noor B. Dawany, W. Chung, J. Kelsen, 2021, Journal of Crohn's & colitis.

Re-evaluation of SNP heritability in complex human traits

Doug Speed, Na Cai, David J Balding, 2016, Nature Genetics.

Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data

James T. Elder, H. Hakonarson, S. Grant, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

S. Nejentsev, V. Plagnol, H. Wajant, 2018, Science.

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Nada Jabado, James Curtis, Sergey Nejentsev, 2013, Science.

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

Sergey Nejentsev, Constantin Ionescu-Tirgoviste, Jaakko Tuomilehto, 2004, Human molecular genetics.

Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis

S. Nejentsev, B. Alisjahbana, Jeffrey S. Szeszko, 2008, PLoS genetics.

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

S. Nejentsev, D. Michalovich, 2018, Front. Immunol..

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

S. Raychaudhuri, S. Nejentsev, C. Contreras, 2019, Nature Communications.

Running Head: Genetic Correlations: Brain & Immune Phenotypes-1 1 Title: Genetic correlations among neuro-behavioral and immune-related phenotypes based on genome-

Annegret, James T. Elder, H. Hakonarson, 2017 .

Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

J. Barrett, S. Nejentsev, V. Plagnol, 2015, Nature Genetics.

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2016, Nature Genetics.

Common variants at 11p13 are associated with susceptibility to tuberculosis

M. Newport, G. Sirugo, F. Vannberg, 2012, Nature Genetics.

A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians

Bachti Alisjahbana, Sergey Nejentsev, Sangkot Marzuki, 2012, BMC Medical Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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

K. Okkenhaug, S. Nejentsev, M. Clatworthy, 2018, bioRxiv.

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

J. Rogers, J. Todd, S. Nutland, 2007, BMC Genetics.

Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis.

J. Ilonen, S. Nejentsev, H. Cordell, 2003, Human immunology.

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation

S. Nejentsev, D. Moshous, K. Gilmour, 2019, Journal of pediatric hematology/oncology.

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

S. Nejentsev, V. Plagnol, S. Burns, 2016, Nature Communications.

Lack of association of the vitamin D receptor gene with Graves’ disease in UK Caucasians

J. Todd, J. Franklyn, J. Heward, 2004, Clinical endocrinology.

Microevolution of extensively drug-resistant tuberculosis in Russia.

Stephen D. Bentley, Julian Parkhill, Simon R. Harris, 2012, Genome research.

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

J. Todd, J. Jolley, N. Walker, 2008, Diabetes.

Efficient genome editing in pathogenic mycobacteria using Streptococcus thermophilus CRISPR1-Cas9.

S. Nejentsev, R. Ummels, J. Maaskant, 2020, Tuberculosis.

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

J. Todd, S. Nutland, N. Walker, 2006, Diabetes/metabolism research and reviews.

Evolution and transmission of drug resistant tuberculosis in a Russian population

Jukka Corander, Julian Parkhill, Sergey Nejentsev, 2014, Nature Genetics.

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

J. Stanford, E. Ostrander, E. Kwon, 2007, Cancer Epidemiology Biomarkers & Prevention.

Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations

J. Todd, H. Stevens, S. Nejentsev, 2008, Nature Genetics.

An open label trial of nemiralisib, an inhaled PI3 kinase delta inhibitor for the treatment of Activated PI3 kinase Delta Syndrome.

Andrew J Want, K. Okkenhaug, S. Nejentsev, 2023, Pulmonary pharmacology & therapeutics.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

S. Nejentsev, V. Plagnol, M. Katan, 2018, Front. Immunol..

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

J. Todd, N. Walker, D. Dunger, 2007, Diabetes.

New Powerful Software for Copy Number Analysis of Exome Sequence Data, Exomedepth, Discovers Novel Mutations in Primary Immunodeficiency Patients

Michael Epstein, Aj Thrasher, Nicholas W. Wood, 2012 .

35th Annual meeting of the European Association for the Study of Diabetes. Brussels, Belgium, 28 September-2 October, 1999. Abstracts.

Thomas J. Smith, B. M. Rasmussen, V. C. Phan, 1999, Diabetologia.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

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

T. Molina, A. Fischer, S. Nejentsev, 2016 .

Association analysis of the LTA4H gene polymorphisms and pulmonary tuberculosis in 9115 subjects

S. Nejentsev, Y. Balabanova, F. Drobniewski, 2011, Tuberculosis.

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

D. Strachan, J. Todd, S. Nutland, 2004, Diabetes.

Topoisomerase 2β mutation impairs early B cell development.

A. Fischer, K. Okkenhaug, S. Nejentsev, 2020, Blood.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

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

S. Nejentsev, V. Plagnol, S. Burns, 2016, The Journal of allergy and clinical immunology.

Clinical spectrum and features of activated phosphoinositide 3-kinase syndrome: Alarge patient cohort study

J. Casanova, S. Nejentsev, P. Palma, 2016 .

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

TUBERCULOSIS No association between interferon-c receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample

D. Kwiatkowski, J. Todd, S. Nejentsev, 2004 .

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

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

G. Charras, S. Nejentsev, V. Plagnol, 2015, Blood.

Genetic correlations among psychiatric and immune-related Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data [preprint] phenotypes based on genome-wide association data [preprint]

James T. Elder, H. Hakonarson, S. Grant, 2020 .

IAPs and RIPK1 mediate LPS-induced cytokine production in healthy subjects and Crohn's disease.

S. Nejentsev, O. Nielsen, J. Seidelin, 2023, Clinical and experimental immunology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

UKPIN 2015 Meeting Abstracts, December 2015: Oral Presentations

F. Rieux-Laucat, R. Döffinger, J. Casanova, 2015, Clinical and experimental immunology.