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List of works by Stephen Sawcer

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis

scientific article published in October 2003

A high-density screen for linkage in multiple sclerosis

scientific article

A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.

scientific article

A second major histocompatibility complex susceptibility locus for multiple sclerosis

scientific article published on March 2007

An ImmunoChip study of multiple sclerosis risk in African Americans

scientific article published on 28 March 2015

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15.

scientific article

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

scientific article

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis

scientific article

Class II HLA interactions modulate genetic risk for multiple sclerosis

scientific article published on 07 September 2015

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Confounding in association studies: month of birth and multiple sclerosis

scientific article

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

scientific article

Effect of age at puberty on risk of multiple sclerosis: A mendelian randomization study

scientific article published on 20 March 2019

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping

article

Erratum: Corrigendum: Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls

scientific article published on 01 August 2015

Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis

scientific article published in March 2006

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals

scientific article

Exome sequencing in single cells from the cerebrospinal fluid in multiple sclerosis

scientific article published on 16 April 2014

Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

scientific article published on 11 September 2018

Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects

scientific article published in November 2013

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility

scientific article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

scientific article

HLA associations in South Asian multiple sclerosis.

scientific article published on 28 April 2015

Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis

scientific article published on 11 August 2006

IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production

scientific article

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

scientific article

Increased THEMIS First Exon Usage in CD4+ T-Cells Is Associated with a Genotype that Is Protective against Multiple Sclerosis

scientific article

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis

scientific article

Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex

scientific article

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

scientific article published on June 2010

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

scientific article

Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci

scientific article

Low frequency and rare coding variation contributes to multiple sclerosis risk

Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

scientific article

Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

scientific article published on 01 December 2018

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

scientific article published on 21 October 2009

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

scientific article

Mononeuritis multiplex: an unexpectedly frequent feature of severe COVID-19

scientific article published on 26 November 2020

Multiple sclerosis genetics

scientific article published on 19 May 2014

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

scientific article

No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis

scientific article published on 26 February 2013

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

Obesity and Multiple Sclerosis: A Mendelian Randomization Study

scientific article

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Population- and individual-specific regulatory variation in Sardinia.

scientific article published on 10 April 2017

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis

scientific article published on 01 October 2003

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

scientific article published on 18 March 2009

Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls

scientific article published on 8 June 2015

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The genetics of multiple sclerosis: SNPs to pathways to pathogenesis

scientific article published on 10 June 2008

The role of the CD58 locus in multiple sclerosis

scientific article

Variation within DNA repair pathway genes and risk of multiple sclerosis

scientific article published on 3 June 2010

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