Author details

Full Name

Stephen Sawcer

Affiliation

ORCID

Career Start Year

1993

Papers

211

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37197821	ADAMS project: a genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis based in the UK.		2023
38038362	Expression profiling of cerebrospinal fluid identifies dysregulated antiviral mechanisms in multiple sclerosis.		2023
35288711	Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.	Nat Genet	2022
35505938	Multivariate profile and acute-phase correlates of cognitive deficits in a COVID-19 hospitalised cohort.	EClinicalMedicine	2022
33244712	Mononeuritis multiplex: an unexpectedly frequent feature of severe COVID-19.	J Neurol	2021
32948852	Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.	Nat Genet	2020
31932686	Transcript specific regulation of expression influences susceptibility to multiple sclerosis.	Eur J Hum Genet	2020
32929287	Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.	Nat Genet	2020
32703234	The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.	Journal of Neuroinflammation	2020
31221055	Do Cerebral Small Vessel Disease and Multiple Sclerosis Share Common Mechanisms of White Matter Injury?	Stroke	2019
30206357	Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.	Eur J Hum Genet	2019
29361022	Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells.	Brain	2018
30526863	Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.	Am J Hum Genet	2018
27903934	Large differences in adiponectin levels have no clear effect on multiple sclerosis risk: A Mendelian randomization study.	Mult Scler	2017
28757204	Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.	Am J Hum Genet	2017
28445677	Overexpression of the Cytokine BAFF and Autoimmunity Risk.	N Engl J Med	2017
28394350	Population- and individual-specific regulatory variation in Sardinia.	Nat Genet	2017
28155580	Age Related Multiple Sclerosis Severity Score: Disability ranked by age.	Multiple Sclerosis Journal	2017
27624058	Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.	BMC Med Genomics	2016
25921049	HLA associations in South Asian multiple sclerosis.	Multiple Sclerosis Journal	2016
27438997	Increased THEMIS First Exon Usage in CD4+ T-Cells Is Associated with a Genotype that Is Protective against Multiple Sclerosis.	PLoS ONE	2016
26754803	European multiple sclerosis risk variants in the south Asian population.	Multiple Sclerosis Journal	2016
27017469	Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.	Lancet Neurol	2016
27236921	Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.	Am J Hum Genet	2016
27351487	Obesity and Multiple Sclerosis: A Mendelian Randomization Study.	PLoS Med	2016
27807284	Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity.	Sci Transl Med	2016
26106896	Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.	PLoS Genet	2015
25616667	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Brain	2015
25818868	An ImmunoChip study of multiple sclerosis risk in African Americans.	Brain	2015
25716334	Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci.	Nat Commun	2015
26053495	Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls.	Nature Genetics	2015
26430804	Imputation of KIR Types from SNP Variation Data.	Am J Hum Genet	2015
26430181	Experience from two decades of the Cambridge Rapid Access Neurology Clinic.	Clinical Medicine	2015
26220137	Corrigendum: Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls.	Nature Genetics	2015
26343388	Class II HLA interactions modulate genetic risk for multiple sclerosis.	Nat Genet	2015
25003214	The correlation between reading and mathematics ability at age twelve has a substantial genetic component.	Nat Commun	2014
25356406	Comment on: Month of birth and risk of multiple sclerosis: confounding and adjustments.	Annals of Clinical and Translational Neurology	2014
24413643	Confounding in association studies: month of birth and multiple sclerosis.	Journal of Neurology	2014
24234648	No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.	Hum Mol Genet	2014
23871474	A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.	Biol Psychiatry	2014
24852507	Multiple sclerosis genetics.	Lancet Neurology, The	2014
24740369	Exome sequencing in single cells from the cerebrospinal fluid in multiple sclerosis.	Multiple Sclerosis Journal	2014
23698362	Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.	Nature	2013
23903824	Genetic burden in multiple sclerosis families.	Genes Immun	2013
24076602	Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.	Nat Genet	2013
23974872	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Nat Genet	2013
23744589	Confounding underlies the apparent month of birth effect in multiple sclerosis.	Annals of Neurology	2013
24278027	Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects.	PLoS Genet	2013
23739915	MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.	Brain	2013
23444327	No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.	Annals of Neurology	2013