List of works by Matthew A. Brown

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass

scientific article published on April 2011

A Novel LEMD3 Mutation Common to Patients with Osteopoikilosis With and Without Melorheostosis

scientific article published on 11 July 2007

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

scientific article published on 14 November 2019

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 susceptibility loci in ankylosing spondylitis

scientific article published on 01 April 1998

A linkage study across the T cell receptor A and T cell receptor B loci in families with rheumatoid arthritis

scientific article published on 01 October 1997

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

scientific article published on 19 June 2020

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation

article

A multiple imputation method based on weighted quantile regression models for longitudinal censored biomarker data with missing values at early visits.

scientific article

A novel human leucocyte antigen-DRB1 genotyping method based on multiplex primer extension reactions

scientific article published in July 2004

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways.

scientific article

A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis

scientific article (publication date: 26 October 2010)

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

scientific article

A review of the MHC genetics of rheumatoid arthritis.

scientific article published on May 2004

ANKH and susceptibility to and severity of ankylosing spondylitis.

scientific article published on 15 November 2011

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing

scientific article

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

scientific article

Analysis of killer immunoglobulin-like receptor genes in ankylosing spondylitis

article

Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study

scientific article published on 01 February 2019

Ankylosing spondylitis in West Africans--evidence for a non-HLA-B27 protective effect

scientific article published on January 1997

Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).

scientific article

Antibody treatments of inflammatory arthritis

scientific article

Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series.

scientific article published on 2 February 2009

Association of Crohn's disease-related chromosome 1q32 with ankylosing spondylitis is independent of bowel symptoms and faecal calprotectin

scientific article

Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study

scientific article published on 03 July 2019

Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.

scientific article

Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease

scientific article

Association ofERAP1, but notIL23R, with ankylosing spondylitis in a Han Chinese population

article

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

scientific article

Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis

scientific article published on 20 March 2014

Australian data do not support current Pharmaceutical Benefits Scheme criteria for use of tumour necrosis factor-α inhibitors in ankylosing spondylitis

article

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH

scientific article

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

scientific article

Axial spondyloarthritis: a new disease entity, not necessarily early ankylosing spondylitis

scientific article published on 25 October 2012

Bayesian refinement of association signals for 14 loci in 3 common diseases

scientific article published on 28 October 2012

Best practices in DNA methylation: lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis.

scientific article published on 3 June 2019

Biomarker development for axial spondyloarthritis

scientific article published on 30 June 2020

Brain natriuretic peptide is a potentially useful screening tool for the detection of cardiovascular disease in patients with rheumatoid arthritis

scientific article published on January 2006

Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis

scientific article published on 21 November 2014

Brief report: high-throughput sequencing of IL23R reveals a low-frequency, nonsynonymous single-nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population

scientific article published in July 2013

COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

scientific article published on 15 August 2014

Cardiovascular disease is increased prior to onset of rheumatoid arthritis but not osteoarthritis: the population-based Nord-Trøndelag health study (HUNT)

scientific article

Challenges in mapping non-HLA-DRB1 major histocompatibility genes in rheumatoid arthritis: Comment on the article by Vignal et al

scholarly article by Matthew A. Brown et al published July 2009 in Arthritis and Rheumatism

Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions

scientific article published on 07 April 2010

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

scientific article published on 13 June 2018

Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis

scientific article published on 27 January 2007

Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies

scientific article published on 2 November 2017

Common variants at 12q14 and 12q24 are associated with hippocampal volume

scientific article

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

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

scientific article published on 30 January 2009

Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips

scientific article published on 8 March 2011

Comparison of methods to construct a genetic risk score for prediction of rheumatoid arthritis in the population-based Nord-Trøndelag Health Study, Norway

scientific article published on 13 January 2020

Comparison of the performance of two commercial genome-wide association study genotyping platforms in Han Chinese samples

scientific article published on January 2013

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

scientific article published on 16 January 2020

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

scientific article published on 14 November 2018

Consensus statement on the investigation and management of non-radiographic axial spondyloarthritis (nr-axSpA).

scientific article published on 28 March 2014

Consensus statements on the imaging of axial spondyloarthritis in Australia and New Zealand.

scientific article

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

scientific article published on March 2017

Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis

scientific article published on August 2016

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

scientific article published on 23 May 2019

Correction: Association of Variants at 1q32 and with Ankylosing Spondylitis Suggests Genetic Overlap with Crohn's Disease

Correction: Association of Variants at 1q32 and STAT3 with Ankylosing Spondylitis Suggests Genetic Overlap with Crohn's Disease.

scientific article published on 3 February 2011

Correction: Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.

scientific article published in March 2018

Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

scientific article published in PLoS ONE

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

scientific article published on 06 December 2018

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

scientific article published on 20 September 2017

Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming

scientific article

Cuff tear arthropathy: evidence of functional variation in pyrophosphate metabolism genes.

scientific article published in September 2007

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study

scientific article published on 14 August 2017

Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis

scientific article

Diffusion-weighted Imaging Is a Sensitive and Specific Magnetic Resonance Sequence in the Diagnosis of Ankylosing Spondylitis

scientific article published on 15 February 2018

Discovery of candidate serum proteomic and metabolomic biomarkers in ankylosing spondylitis

scientific article

Disease-associated polymorphisms in ERAP1 do not alter endoplasmic reticulum stress in patients with ankylosing spondylitis

article

Disparate associations of the FcgammaRIIIa 158/V variant with RA in two diverse populations.

scientific article published on 26 January 2001

Dissection of class III major histocompatibility complex haplotypes associated with rheumatoid arthritis

scientific article published in 2004

Distinct recognition of closely-related HIV-1 and HIV-2 cytotoxic T-cell epitopes presented by HLA-B*2703 and B*2705.

scientific article

Does the microbiome play a causal role in spondyloarthritis?

scientific article

ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.

scientific article published on 03 January 2017

ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers

scientific article published on 18 June 2015

ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients

scientific article published on 27 April 2015

Early anti-inflammatory intervention ameliorates axial disease in the proteoglycan-induced spondylitis mouse model of ankylosing spondylitis.

scientific article

Ectopic calcification among families in the Azores: Clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis

scientific article published on 01 April 2006

Effect of an Estrogen Receptor-α Intron 4 Polymorphism on Fat Mass in 11-Year-Old Children

scientific article published on 03 April 2007

Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients.

scientific article published on 20 February 2006

Efficacy and safety of adalimumab in patients with non-radiographic axial spondyloarthritis: results of a randomised placebo-controlled trial (ABILITY-1).

scientific article published on 7 July 2012

Elevated / Expression During the Disease Process of Primary Sjögren's Syndrome

scientific article published on 24 April 2019

Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene

scientific article

Enrichment of circulating interleukin-17-secreting interleukin-23 receptor-positive γ/δ T cells in patients with active ankylosing spondylitis

Epidemiology of ankylosing spondylitis: IGAS 2009.

scientific article published in December 2010

Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci implicate immune cells and the gut in the disease pathogenesis

scientific article published on 15 June 2017

Erratum: Corrigendum: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

scholarly article published in Nature Genetics

Estrogen Receptor α Regulates Area-Adjusted Bone Mineral Content in Late Pubertal Girls

scientific article published on 14 November 2006

Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport.

scientific article

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

scientific article published on 25 September 2015

Evidence for a second ankylosing spondylitis-associated RUNX3 regulatory polymorphism.

scientific article published on 8 February 2018

Evidence of genetic association between TNFRSF1A encoding the p55 tumour necrosis factor receptor, and ankylosing spondylitis in UK Caucasians.

scientific article published in January 2012

Excessive bone formation in a mouse model of ankylosing spondylitis is associated with decreases in Wnt pathway inhibitors

scientific article published on 22 November 2012

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

scientific article published on 4 May 2016

Expression profiling in spondyloarthropathy synovial biopsies highlights changes in expression of inflammatory genes in conjunction with tissue remodelling genes

scientific article

Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis

scientific article published on 03 October 2008

Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis

scientific article published on 25 October 2005

Five years of GWAS discovery

scientific article

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

scientific article published on April 2016

Functional Genomic Analysis of a RUNX3 Polymorphism Associated with Ankylosing Spondylitis

scientific article published on 26 December 2020

Functional Genomics and Its Bench-to-Bedside Translation Pertaining to the Identified Susceptibility Alleles and Loci in Ankylosing Spondylitis.

scientific article published on October 2016

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

scientific article published on 31 October 2019

Gene expression profiling reveals a downregulation in immune-associated genes in patients with AS.

scientific article published on 29 July 2009

Genes Determining Nevus Count and Dermoscopic Appearance in Australian Melanoma Cases and Controls

scientific article published on 15 August 2019

Genetic Variants in ERAP1 and ERAP2 Associated With Immune-Mediated Diseases Influence Protein Expression and the Isoform Profile.

scientific article

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

scientific article

Genetic and genomic studies of PADI4 in rheumatoid arthritis

scientific article published on 06 April 2005

Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis

scientific article (publication date: July 2002)

Genetic association of ankylosing spondylitis with TBX21 influences T-bet and pro-inflammatory cytokine expression in humans and SKG mice as a model of spondyloarthritis.

scientific article

Genetic control of bone density and turnover: role of the collagen 1alpha1, estrogen receptor, and vitamin D receptor genes

scientific article published in April 2001

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

scientific article

Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton

scientific article

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

scientific article

Genetic insights into common pathways and complex relationships among immune-mediated diseases

scientific article published on 06 August 2013

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

scientific article

Genetic risk scores in inflammatory arthritis: a new era?

scientific article published on 20 July 2020

Genetic studies in osteoporosis--the end of the beginning

scientific article (publication date: 2008)

Genetic studies of chondrocalcinosis

scientific article

Genetic studies of common rheumatological diseases

scientific article published on 01 August 1998

Genetic studies of disorders of calcium crystal deposition.

scientific article

Genetic studies of osteoporosis--a rethink required.

scientific article

Genetic susceptibility to ankylosing spondylitis

scientific article published on February 2004

Genetic susceptibility to cervical neoplasia

scientific article published on 05 April 2019

Genetic testing for haemochromatosis in patients with chondrocalcinosis

scientific article published on August 2002

Genetics and genomics of ankylosing spondylitis

scientific article published on January 2010

Genetics and the Causes of Ankylosing Spondylitis.

scientific article

Genetics and the pathogenesis of ankylosing spondylitis

scientific article published on July 2009

Genetics in ankylosing spondylitis - Current state of the art and translation into clinical outcomes

scientific article published on 01 December 2017

Genetics of ankylosing spondylitis

scientific article published on 31 July 2013

Genetics of ankylosing spondylitis

article

Genetics of ankylosing spondylitis

scientific article published on 01 November 2002

Genetics of ankylosing spondylitis--insights into pathogenesis

scientific article published on 06 October 2015

Genetics of rheumatoid arthritis contributes to biology and drug discovery

scientific article

Genetics of spondyloarthropathies

article

Genome-wide Association Studies

Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

scientific article

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

scientific article published in October 2013

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.

scientific article

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

scientific article

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

scientific article

Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene

scientific article

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

scientific article

Genome-wide association study in Guillain-Barré syndrome

scientific article published on 02 August 2018

Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis

article

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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 association study of ankylosing spondylitis identifies non-MHC susceptibility loci

scientific article published on 10 January 2010

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide association study to identify genetic determinants of severe asthma.

scientific article

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

scientific article

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

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

scientific article

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

article

Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci

scientific article published on 01 June 2020

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Geo-epidemiology of temporal artery biopsy-positive giant cell arteritis in Australia and New Zealand: is there a seasonal influence?

scientific article published on 29 August 2017

HLA Alleles Associated With Risk of Ankylosing Spondylitis and Rheumatoid Arthritis Influence the Gut Microbiome

scientific article published on 12 August 2019

HLA and KIR Associations of Cervical Neoplasia

scientific article published in 2018

HLA class I and II alleles in susceptibility to ankylosing spondylitis

scientific article published on 19 October 2018

HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom.

scientific article

HLA-B associations of HLA-B27 negative ankylosing spondylitis: Comment on the article by Yamaguchi et al

scientific article published on 01 October 1996

HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis.

scientific article published in April 2005

HLA-DR/DQ haplotype in rheumatoid arthritis: novel allelic associations in UK Caucasians

scientific article published in September 2002

Harmonization, data management, and statistical issues related to prospective multicenter studies in Ankylosing spondylitis (AS): Experience from the Prospective Study Of Ankylosing Spondylitis (PSOAS) cohort

High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort

scientific article published on 26 April 2013

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

scientific article

Human leucocyte antigen-B27 and ankylosing spondylitis

scientific article published on 01 November 2007

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

scientific article

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

scientific article

Identification of major loci controlling clinical manifestations of ankylosing spondylitis

scientific article published in August 2003

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

scientific article

Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis

scientific article

Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis

scientific article published on January 2014

Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis

scientific article published on 28 April 2018

Incorrect Institutional Affiliations of Authors in the Article by Jiang et al (Arthritis Rheumatol, May 2014)

Influence of Cigarette Smoking on Rheumatoid Arthritis Risk in the Han Chinese Population

scientific article

Influence of LRP5 Polymorphisms on Normal Variation in BMD

article

Integrated genome-wide chromatin occupancy and expression analyses identify key myeloid pro-differentiation transcription factors repressed by Myb ⬇️

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

Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis

article

Interleukin 10 polymorphisms in ankylosing spondylitis

article

Interleukin-23 mediates the intestinal response to microbial β-1,3-glucan and the development of spondyloarthritis pathology in SKG mice

article

International physician survey on management of FOP: a modified Delphi study.

scientific article

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis

article published in 2011

Investigating the genetic association between ERAP1 and ankylosing spondylitis

scientific article published on 18 August 2009

Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis

article

Investigation of the role ofANKHin ankylosing spondylitis

scientific article published on 01 October 2003

Is disease severity in ankylosing spondylitis genetically determined?

scientific article published on 01 June 2001

Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?

scientific article published in May 2012

Longitudinal associations between depressive symptoms and clinical factors in ankylosing spondylitis patients: analysis from an observational cohort

scientific article published on 12 March 2020

Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

scientific article published on 23 July 2018

Low responders to endurance training exhibit impaired hypertrophy and divergent biological process responses in rat skeletal muscle

scientific article published on 05 February 2021

Lymphoplasmacytoid lymphoma presenting as severe osteoporosis

scientific article published on May 2002

MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis

scientific article published on 03 December 2019

Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.

scientific article published on 21 May 2015

Mapping genes for osteoporosis--old dogs and new tricks

scientific article published on 11 January 2010

Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm

scientific article published on 09 April 2013

Microbes, the gut and ankylosing spondylitis

scientific article

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

scientific article

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

scientific article published in March 2012

Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells

scientific article published on 09 June 2020

Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

scientific article

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

scientific article

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

scientific article published on 11 April 2016

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

scientific article published on 20 April 2016

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

scientific article published in August 2017

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

scientific article published on 03 May 2019

New approaches in ankylosing spondylitis

scientific article published on 01 March 2017

Non-B27 MHC associations of ankylosing spondylitis.

scientific article

Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F.

scientific article published on 28 June 2018

Non-inherited maternal HLA alleles are associated with rheumatoid arthritis

scientific article published on January 2003

Non-major-histocompatibility-complex genetics of ankylosing spondylitis

scientific article published on June 2006

Nonsteroidal Anti-inflammatory Drug use is Associated with Incident Hypertension in Ankylosing Spondylitis

scientific article published on 17 September 2019

Normal human enthesis harbours conventional CD4+ and CD8+ T cells with regulatory features and inducible IL-17A and TNF expression

scientific article published on 13 May 2020

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia

scientific article

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

scientific article

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways ⬇️

scientific article published in Nature Communications

Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans

scientific article

Osteoclast formation from circulating precursors in osteoporosis

scientific article published in January 2003

PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton

article

PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis

scientific article published on 7 April 2016

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

scientific article published on 23 March 2009

Pathogenesis of ankylosing spondylitis - recent advances and future directions.

scientific article

Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

scientific article published on 26 December 2017

Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians

scientific article

Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis

article

Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance

scientific article published on 01 April 2019

Predisposing factors to spondyloarthropathies

scientific article published on July 1, 1997

Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients.

scientific article

Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis

scientific article published on 29 October 2009

Progress in the genetics of ankylosing spondylitis

scientific article published on 30 September 2011

Progress of genome-wide association studies of ankylosing spondylitis.

scientific article published in December 2017

Promise and pitfalls of the Immunochip

scientific article published on February 2011

Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis

article

Prurigo nodularis and aluminium overload in maintenance haemodialysis

scientific article

Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways ⬇️

scientific article published in Nature Communications

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

scientific article published on 03 October 2016

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

scientific article published in December 2017

Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese

scientific article published on 16 December 2005

Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes

scientific article published on 12 February 2013

Rheumatic complications of influenza vaccination

article

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

scientific article published on 08 July 2011

Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations

scientific article

Role of HLA genes in familial spondyloarthropathy

scientific article published in August 2002

Role ofNOD2 variants in spondylarthritis

scientific article published on 01 June 2002

Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women

article

Saliva-Derived DNA Performs Well in Large-Scale, High-Density Single-Nucleotide Polymorphism Microarray Studies

scientific article published on 03 March 2010

Self-reported Diagnosis of Rheumatoid Arthritis or Ankylosing Spondylitis Has Low Accuracy: Data from the Nord-Trøndelag Health Study.

scientific article

Serum connective tissue growth factor is a highly discriminatory biomarker for the diagnosis of rheumatoid arthritis

scientific article published on 22 November 2017

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

scientific journal article

Shotgun metagenomics reveals an enrichment of potentially cross-reactive bacterial epitopes in ankylosing spondylitis patients, as well as the effects of TNFi therapy upon microbiome composition

scientific article published on 29 October 2019

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

scientific article published on 27 February 2020

Site and Gender Specificity of Inheritance of Bone Mineral Density

article

Solving the pathogenesis of ankylosing spondylitis

scholarly article by Matthew A. Brown published January 2018 in Clinical Immunology

Special Considerations for Clinical Trials in Fibrodysplasia Ossificans Progressiva (FOP)

article

Spinal inflammation in the absence of sacroiliac joint inflammation on magnetic resonance imaging in patients with active nonradiographic axial spondyloarthritis

scientific article

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

article

Susceptibility to ankylosing spondylitis

scientific article published on 01 April 2000

Susceptibility to ankylosing spondylitis in twins the role of genes, HLA, and the environment

article

The F158V polymorphism in FcgammaRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations

scientific article published on November 2002

The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.

scientific article published on 30 August 2017

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

scientific article

The X‐chromosome and susceptibility to ankylosing spondylitis

scientific article published on 01 June 2000

The calcium pump plasma membrane Ca(2+)-ATPase 2 (PMCA2) regulates breast cancer cell proliferation and sensitivity to doxorubicin.

scientific article

The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

scientific article

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

scientific article

The effect of HLA-DR genes on susceptibility to and severity of ankylosing spondylitis

scientific article published on 01 March 1998

The effect of HLA–DR on susceptibility to rheumatoid arthritis is influenced by the associated lymphotoxin α–tumor necrosis factor haplotype

scientific article published in January 2003

The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood.

scientific article

The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitis

scientific article published on 30 July 2003

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.

scientific article published on 26 November 2015

The genetic basis of spondyloarthritis: SPARTAN/IGAS 2009.

scientific article

The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis

scientific article

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis

article

The revolution in human monogenic disease mapping

scientific article

The role of IL-17-secreting mast cells in inflammatory joint disease

scientific article published on 11 December 2012

The role of germline polymorphisms in the T-cell receptor in susceptibility to ankylosing spondylitis.

scientific article published in April 1998

The v-MFG test: investigating maternal, offspring and maternal-fetal genetic incompatibility effects on disease and viability

scientific article

Toll-like receptor 4 and CD14 polymorphisms in ankylosing spondylitis: evidence of a weak association in Finns

scientific article published on 15 July 2008

Transcriptome analysis of ankylosing spondylitis patients before and after TNF-α inhibitor therapy reveals the pathways affected.

scientific article published on 24 August 2017

Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota

scientific article published on 17 February 2018

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

scientific article published on 14 January 2020

Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis

scientific article published on 15 May 2014

Vedolizumab for inflammatory bowel disease: a two-edge sword in the gut-joint/enthesis axis

scientific article published on 01 June 2019

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

scientific article published in July 2012

Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects

scientific article

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

scientific article

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

scientific article published on 25 October 2013

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

scientific article published on 10 December 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

scientific article published on 04 December 2013

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

scientific article

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

scientific article published on 8 February 2018

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

scientific article published on 17 November 2017

Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom

article

Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci

scientific article

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

scientific article

Workers' compensation and chronic regional musculoskeletal pain

scientific article published on 01 August 1998

β-glucan triggers spondylarthritis and Crohn's disease-like ileitis in SKG mice

article

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