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412 peer-reviewed articles • 35,763 peer-reviewed citations • Sorted by year • Download PDF (PDF by citations)
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1Antigen-driven T cell responses in rheumatic diseases: insights from T cell receptor repertoire studies
Nature Reviews Rheumatology, 2025, 21, 157-173
17.19Citations (PDF)
2Apolipoprotein E selectively supports gammaherpesvirus replication in macrophages2.42Citations (PDF)
3Polygenic risk scores1.94Citations (PDF)
4Low uveitis rates in patients with axial spondyloarthritis treated with bimekizumab: pooled results from phase 2b/3 trials6.533Citations (PDF)
5Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility11.039Citations (PDF)
6A genome-wide association analysis reveals new pathogenic pathways in gout
Nature Genetics, 2024, 56, 2392-2406
14.188Citations (PDF)
7Genotype by sex interactions in ankylosing spondylitis
Nature Genetics, 2023, 55, 14-16
14.19Citations (PDF)
8HLA-B27, axial spondyloarthritis and survival6.530Citations (PDF)
9Identifying trajectories of radiographic spinal disease in ankylosing spondylitis: a 15-year follow-up study of the PSOAS cohort
Rheumatology, 2022, 61, 2079-2087
1.413Citations (PDF)
10Mortality in ankylosing spondylitis according to treatment: comment on the article by Ben Shabat et al
Arthritis Care and Research, 2022, 74, 2120-2121
2.20Citations (PDF)
11The P4 study: Subsequent pregnancy maternal physiology after hypertensive and normotensive pregnancies
Pregnancy Hypertension, 2022, 27, 29-34
0.43Citations (PDF)
12The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’1.62Citations (PDF)
13Humoral and cellular immunogenicity to a second dose of COVID-19 vaccine BNT162b2 in people receiving methotrexate or targeted immunosuppression: a longitudinal cohort study
Lancet Rheumatology, The, 2022, 4, e42-e52
13.675Citations (PDF)
14The Association of Tumor Necrosis Factor Inhibitor Use With Incident Hypertension in Ankylosing Spondylitis: Data From the PSOAS Cohort
Journal of Rheumatology, 2022, 49, 274-280
1.25Citations (PDF)
15Effect of short-term hindlimb immobilization on skeletal muscle atrophy and the transcriptome in a low compared with high responder to endurance training model
PLoS ONE, 2022, 17, e0261723
1.59Citations (PDF)
16Vaccine hesitancy and access to psoriasis care during the COVID ‐19 pandemic: findings from a global patient‐reported cross‐sectional survey
British Journal of Dermatology, 2022, 187, 254-256
0.913Citations (PDF)
17Factors predicting axial spondyloarthritis among first-degree relatives of probands with ankylosing spondylitis: a family study spanning 35 years6.515Citations (PDF)
1847XXY and 47XXX in Scleroderma and Myositis
ACR Open Rheumatology, 2022, 4, 528-533
1.522Citations (PDF)
19Progress in the genetics of uveitis
Genes and Immunity, 2022, 23, 57-65
1.966Citations (PDF)
20Impact of HLA-B27 and Disease Status on the Gut Microbiome of the Offspring of Ankylosing Spondylitis Patients
Children, 2022, 9, 569
1.217Citations (PDF)
21Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
Science, 2022, 376,
26.5254Citations (PDF)
22Heterogeneity of axial spondyloarthritis: genetics, sex and structural damage matter
RMD Open, 2022, 8, e002302
2.736Citations (PDF)
23Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling
Arthritis and Rheumatology, 2022, 74, 1535-1543
4.756Citations (PDF)
24Contribution of HLA and KIR Alleles to Systemic Sclerosis Susceptibility and Immunological and Clinical Disease Subtypes1.620Citations (PDF)
25Distinctive gut microbiomes of ankylosing spondylitis and inflammatory bowel disease patients suggest differing roles in pathogenesis and correlate with disease activity2.938Citations (PDF)
26Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study
RMD Open, 2022, 8, e002208
2.712Citations (PDF)
27T cell Repertoire Profiling and the Mechanism by which HLA-B27 Causes Ankylosing Spondylitis
Current Rheumatology Reports, 2022, 24, 398-410
2.746Citations (PDF)
28Prevalence of Depression in an Urban, Predominantly Black ESKD Population During the COVID-19 Pandemic0.30Citations (PDF)
29Low responders to endurance training exhibit impaired hypertrophy and divergent biological process responses in rat skeletal muscle
Experimental Physiology, 2021, 106, 714-725
1.87Citations (PDF)
30Risk‐mitigating behaviours in people with inflammatory skin and joint disease during the COVID‐19 pandemic differ by treatment type: a cross‐sectional patient survey*0.928Citations (PDF)
31Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes6.545Citations (PDF)
32Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis6.573Citations (PDF)
33Functional Genomic Analysis of a RUNX3 Polymorphism Associated With Ankylosing Spondylitis
Arthritis and Rheumatology, 2021, 73, 980-990
4.713Citations (PDF)
34Repeated Spinal Mobility Measures and Their Association With Radiographic Damage in Ankylosing Spondylitis
ACR Open Rheumatology, 2021, 3, 413-421
1.52Citations (PDF)
35Inflammasome Activation in Ankylosing Spondylitis Is Associated With Gut Dysbiosis
Arthritis and Rheumatology, 2021, 73, 1189-1199
4.781Citations (PDF)
36Genome wide association study of response to interval and continuous exercise training: the Predict-HIIT study8.134Citations (PDF)
37Ankylosing spondylitis: an autoimmune or autoinflammatory disease?
Nature Reviews Rheumatology, 2021, 17, 387-404
17.1314Citations (PDF)
38Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis
Human Molecular Genetics, 2021, 30, 2393-2401
2.17Citations (PDF)
39A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young
JCI Insight, 2021, 6,
3.729Citations (PDF)
40Describing the burden of the COVID‐19 pandemic in people with psoriasis: findings from a global cross‐sectional study1.720Citations (PDF)
41The effect of methotrexate and targeted immunosuppression on humoral and cellular immune responses to the COVID-19 vaccine BNT162b2: a cohort study
Lancet Rheumatology, The, 2021, 3, e627-e637
13.6158Citations (PDF)
42Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?3.3104Citations (PDF)
43Performance Evaluation of Multiple Ultrasonographical Methods for the Detection of Primary Sjögren’s Syndrome3.39Citations (PDF)
44Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance
Journal of Rheumatology, 2020, 47, 204-210
1.215Citations (PDF)
45Gender Disparity in Inpatient Mortality After Transjugular Intrahepatic Portosystemic Shunt Creation in Patients Admitted With Hepatorenal Syndrome: A Nationwide Study2.113Citations (PDF)
46A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis3.345Citations (PDF)
47Genes Determining Nevus Count and Dermoscopic Appearance in Australian Melanoma Cases and Controls
Journal of Investigative Dermatology, 2020, 140, 498-501.e17
1.814Citations (PDF)
48A latent class based imputation method under Bayesian quantile regression framework using asymmetric Laplace distribution for longitudinal medication usage data with intermittent missing values0.93Citations (PDF)
49Shotgun metagenomics reveals an enrichment of potentially cross-reactive bacterial epitopes in ankylosing spondylitis patients, as well as the effects of TNFi therapy upon microbiome composition6.5119Citations (PDF)
50Nonsteroidal Antiinflammatory Drug Use and Association With Incident Hypertension in Ankylosing Spondylitis
Arthritis Care and Research, 2020, 72, 1645-1652
2.230Citations (PDF)
51Factors influencing cancer genetic somatic mutation test ordering by cancer physician4.816Citations (PDF)
52Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva1.813Citations (PDF)
53Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population
EBioMedicine, 2020, 57, 102840
6.617Citations (PDF)
54HLA-A alleles including HLA-A29 affect the composition of the gut microbiome: a potential clue to the pathogenesis of birdshot retinochoroidopathy
Scientific Reports, 2020, 10,
2.719Citations (PDF)
55Epistatic interactions between killer immunoglobulin-like receptors and human leukocyte antigen ligands are associated with ankylosing spondylitis
PLoS Genetics, 2020, 16, e1008906
2.218Citations (PDF)
56Estimates of the rate of infection and asymptomatic COVID-19 disease in a population sample from SE England
Journal of Infection, 2020, 81, 931-936
2.563Citations (PDF)
57Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Nature, 2020, 583, 90-95
31.3230Citations (PDF)
58Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study1.61Citations (PDF)
59Normal human enthesis harbours conventional CD4+ and CD8+ T cells with regulatory features and inducible IL-17A and TNF expression6.581Citations (PDF)
60Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci
2020, 61, 3
68Citations (PDF)
61A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction11.096Citations (PDF)
62Altered Repertoire Diversity and Disease‐Associated Clonal Expansions Revealed by T Cell Receptor Immunosequencing in Ankylosing Spondylitis Patients
Arthritis and Rheumatology, 2020, 72, 1289-1302
4.761Citations (PDF)
63Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis2.834Citations (PDF)
64Longitudinal associations between depressive symptoms and clinical factors in ankylosing spondylitis patients: analysis from an observational cohort
Rheumatology International, 2020, 40, 1053-1061
1.812Citations (PDF)
65Biomarker development for axial spondyloarthritis
Nature Reviews Rheumatology, 2020, 16, 448-463
17.159Citations (PDF)
66Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation1.639Citations (PDF)
67Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging1.11Citations (PDF)
68Comparison of methods to construct a genetic risk score for prediction of rheumatoid arthritis in the population-based Nord-Trøndelag Health Study, Norway
Rheumatology, 2020, 59, 1743-1751
1.48Citations (PDF)
69Circular RNA sequencing indicates circ-IQGAP2 and circ-ZC3H6 as noninvasive biomarkers of primary Sjögren’s syndrome
Rheumatology, 2020, 59, 2603-2615
1.446Citations (PDF)
70MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions2.924Citations (PDF)
71Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells
Life Science Alliance, 2020, 3, e202000650
1.936Citations (PDF)
72A global natural history study of Fibrodysplasia Ossificans Progressiva (FOP): 12-month outcomes0.01Citations (PDF)
73Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data2.796Citations (PDF)
74Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study
JAMA Psychiatry, 2019, 76, 1026
8.465Citations (PDF)
75GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways11.0189Citations (PDF)
76Best practices in DNA methylation: lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis2.936Citations (PDF)
77Elevated CCL19/CCR7 Expression During the Disease Process of Primary Sjögren's Syndrome3.337Citations (PDF)
78Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes1.868Citations (PDF)
79HLA Alleles Associated With Risk of Ankylosing Spondylitis and Rheumatoid Arthritis Influence the Gut Microbiome
Arthritis and Rheumatology, 2019, 71, 1642-1650
4.7172Citations (PDF)
80Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis3.310Citations (PDF)
81Genetic susceptibility to cervical neoplasia3.222Citations (PDF)
82Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis
PLoS Genetics, 2019, 15, e1008038
2.260Citations (PDF)
83Population‐based identity‐by‐descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia0.84Citations (PDF)
84Vedolizumab for inflammatory bowel disease: a two-edge sword in the gut-joint/enthesis axis
Rheumatology, 2019, 58, 937-939
1.46Citations (PDF)
85Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort
Pediatric Diabetes, 2019, 20, 57-64
1.043Citations (PDF)
86An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice3.37Citations (PDF)
87HLA class I and II alleles in susceptibility to ankylosing spondylitis6.575Citations (PDF)
88Cost-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
Diabetes Care, 2019, 42, 69-76
6.537Citations (PDF)
89Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study
Rheumatology, 2019, 58, 289-298
1.418Citations (PDF)
90Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)1.537Citations (PDF)
91MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis
Clinical Rheumatology, 2019, 39, 1295-1303
1.341Citations (PDF)
92OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY?0.20Citations (PDF)
93Repeatability of USCOM®-measured cardiac output in normotensive non-pregnant and pregnant women
Pregnancy Hypertension, 2018, 12, 71-74
0.43Citations (PDF)
94Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response
Journal of Pathology, 2018, 245, 283-296
3.296Citations (PDF)
95Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism
Pediatric Diabetes, 2018, 19, 656-662
1.017Citations (PDF)
96Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma
British Journal of Dermatology, 2018, 178, e263-e264
0.92Citations (PDF)
97Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family
Journal of Diabetes, 2018, 10, 764-767
2.412Citations (PDF)
98An N‐Ethyl‐N‐Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion
JBMR Plus, 2018, 2, 154-163
1.52Citations (PDF)
99Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis6.515Citations (PDF)
100Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans5.0237Citations (PDF)
101Evidence for a second ankylosing spondylitis-associated RUNX3 regulatory polymorphism
RMD Open, 2018, 4, e000628
2.717Citations (PDF)
102Evaluation of the effect of baseline MRI sacroiliitis and C reactive protein status on etanercept treatment response in non-radiographic axial spondyloarthritis: a post hoc analysis of the EMBARK study6.519Citations (PDF)
103Solving the pathogenesis of ankylosing spondylitis
Clinical Immunology, 2018, 186, 46-50
1.39Citations (PDF)
104Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density6.525Citations (PDF)
105Indications for delivery in pre-eclampsia
Pregnancy Hypertension, 2018, 11, 12-17
0.424Citations (PDF)
106Opioid Analgesic Use in Patients with Ankylosing Spondylitis: An Analysis of the Prospective Study of Outcomes in an Ankylosing Spondylitis Cohort
Journal of Rheumatology, 2018, 45, 188-194
1.230Citations (PDF)
107Genetic Variants in ERAP1 and ERAP2 Associated With Immune‐Mediated Diseases Influence Protein Expression and the Isoform Profile
Arthritis and Rheumatology, 2018, 70, 255-265
4.763Citations (PDF)
108Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways11.0112Citations (PDF)
109Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases11.090Citations (PDF)
110Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia4.119Citations (PDF)
111Genome-wide association study in Guillain-Barré syndrome
Journal of Neuroimmunology, 2018, 323, 109-114
1.719Citations (PDF)
112Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis1.317Citations (PDF)
113Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F
RMD Open, 2018, 4, e000677
2.717Citations (PDF)
114A multiple imputation method based on weighted quantile regression models for longitudinal censored biomarker data with missing values at early visits1.718Citations (PDF)
115Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota
Microbiome, 2018, 6,
8.279Citations (PDF)
116Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy1.860Citations (PDF)
117HLAandKIRAssociations of Cervical Neoplasia
Journal of Infectious Diseases, 2018, 218, 2006-2015
2.231Citations (PDF)
118Harmonization, data management, and statistical issues related to prospective multicenter studies in Ankylosing spondylitis (AS): Experience from the Prospective Study Of Ankylosing Spondylitis (PSOAS) cohort0.919Citations (PDF)
119Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
Cell, 2018, 173, 1705-1715.e16
23.8778Citations (PDF)
120Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes4.562Citations (PDF)
121Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes
Bone, 2018, 114, 62-71
2.358Citations (PDF)
122Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport6.866Citations (PDF)
123Genetic association of ankylosing spondylitis with TBX21 influences T-bet and pro-inflammatory cytokine expression in humans and SKG mice as a model of spondyloarthritis6.545Citations (PDF)
124Self-reported Diagnosis of Rheumatoid Arthritis or Ankylosing Spondylitis Has Low Accuracy: Data from the Nord-Trøndelag Health Study
Journal of Rheumatology, 2017, 44, 1134-1141
1.238Citations (PDF)
125Pathogenesis of ankylosing spondylitis — recent advances and future directions
Nature Reviews Rheumatology, 2017, 13, 359-367
17.1308Citations (PDF)
126Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci implicate immune cells and the gut in the disease pathogenesis
Genes and Immunity, 2017, 18, 135-143
1.930Citations (PDF)
127Incidence and prevalence of NMOSD in Australia and New Zealand4.2121Citations (PDF)
128Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease4.5460Citations (PDF)
129ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations5.339Citations (PDF)
130Geo-epidemiology of temporal artery biopsy-positive giant cell arteritis in Australia and New Zealand: is there a seasonal influence?
RMD Open, 2017, 3, e000531
2.726Citations (PDF)
131Transcriptome analysis of ankylosing spondylitis patients before and after TNF-α inhibitor therapy reveals the pathways affected
Genes and Immunity, 2017, 18, 184-190
1.922Citations (PDF)
132Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis11.0120Citations (PDF)
133Genetics and the Causes of Ankylosing Spondylitis0.9121Citations (PDF)
134NAD Deficiency, Congenital Malformations, and Niacin Supplementation19.4249Citations (PDF)
135Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies1.510Citations (PDF)
13610 Years of GWAS Discovery: Biology, Function, and Translation4.53,803Citations (PDF)
137Early anti-inflammatory intervention ameliorates axial disease in the proteoglycan-induced spondylitis mouse model of ankylosing spondylitis1.512Citations (PDF)
138International physician survey on management of FOP: a modified Delphi study1.818Citations (PDF)
139Cancer predisposition syndromes: lessons for truly precision medicine
Journal of Pathology, 2017, 241, 226-235
3.216Citations (PDF)
140Progress of genome‐wide association studies of ankylosing spondylitis2.149Citations (PDF)
141Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma
2017, 58, 1537
18Citations (PDF)
142Influence of Cigarette Smoking on Rheumatoid Arthritis Risk in the Han Chinese Population1.710Citations (PDF)
143Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent
2017, 58, 6248
20Citations (PDF)
144Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
Genome Medicine, 2017, 9,
5.930Citations (PDF)
145Serum connective tissue growth factor is a highly discriminatory biomarker for the diagnosis of rheumatoid arthritis2.927Citations (PDF)
146Genetics in ankylosing spondylitis – Current state of the art and translation into clinical outcomes3.439Citations (PDF)
147Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study
PLoS Genetics, 2017, 13, e1006866
2.2128Citations (PDF)
148Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
PLoS ONE, 2017, 12, e0172427
1.59Citations (PDF)
149Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies3.327Citations (PDF)
150Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families
Human Mutation, 2016, 37, 695-702
1.049Citations (PDF)
151Rare variants in optic disc area gene CARD 10 enriched in primary open‐angle glaucoma1.015Citations (PDF)
152Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function2.737Citations (PDF)
153PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis
RMD Open, 2016, 2, e000246
2.710Citations (PDF)
154Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease2.844Citations (PDF)
155Inflammation-driven bone formation in a mouse model of ankylosing spondylitis: sequential not parallel processes2.958Citations (PDF)
156A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies4.524Citations (PDF)
157Functional Genomics and Its Bench-to-Bedside Translation Pertaining to the Identified Susceptibility Alleles and Loci in Ankylosing Spondylitis2.76Citations (PDF)
158Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis4.588Citations (PDF)
159Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases3.343Citations (PDF)
160Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia4.566Citations (PDF)
161Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children4.545Citations (PDF)
162Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
Nature Genetics, 2016, 48, 510-518
14.1766Citations (PDF)
163Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway
PLoS ONE, 2016, 11, e0167916
1.512Citations (PDF)
164Treatment of a mouse model of ankylosing spondylitis with exogenous sclerostin has no effect on disease progression1.512Citations (PDF)
165O53. PTPN22 is Associated with Susceptibility to Psoriatic Arthritis but not Psoriasis: Evidence for a Further PSA-Specific Risk Locus
Rheumatology, 2015, ,
1.41Citations (PDF)
166Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP111.0270Citations (PDF)
167PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus6.575Citations (PDF)
168Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis
Arthritis and Rheumatology, 2015, 67, 686-691
4.7417Citations (PDF)
169Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies
Clinical Genetics, 2015, 88, 550-557
1.551Citations (PDF)
170Amyotrophic Lateral Sclerosis Genetic Studies
Neuroscientist, 2015, 21, 599-615
2.925Citations (PDF)
171A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
Nature Genetics, 2015, 47, 387-392
14.1117Citations (PDF)
172Identification of a novelFGFRL1MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies
Human Molecular Genetics, 2015, 24, 4710-4727
2.124Citations (PDF)
173ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers6.520Citations (PDF)
174ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients6.5100Citations (PDF)
175Pre-eclampsia causes adverse maternal outcomes across the gestational spectrum
Pregnancy Hypertension, 2015, 5, 198-204
0.432Citations (PDF)
176ERAP1 biology and assessment in Ankylosing Spondylitis5.312Citations (PDF)
177Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene
Diabetologia, 2015, 58, 2288-2297
4.8103Citations (PDF)
178C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis
Neurobiology of Aging, 2015, 36, 2660.e1-2660.e8
2.452Citations (PDF)
179The ASAS Criteria for Axial Spondyloarthritis: Strengths, Weaknesses, and Proposals for a Way Forward2.743Citations (PDF)
180Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Nature, 2015, 526, 112-117
31.3606Citations (PDF)
181The intestinal microbiome in human disease and how it relates to arthritis and spondyloarthritis3.437Citations (PDF)
182WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness
Human Molecular Genetics, 2015, 24, 5060-5068
2.164Citations (PDF)
183Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis11.0181Citations (PDF)
184Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects
Human Molecular Genetics, 2015, 24, 1234-1242
2.143Citations (PDF)
185Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis6.580Citations (PDF)
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202Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women
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205Spinal Inflammation in the Absence of Sacroiliac Joint Inflammation on Magnetic Resonance Imaging in Patients With Active Nonradiographic Axial Spondyloarthritis
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206Multistage genome-wide association meta-analyses identified two new loci for bone mineral density
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207Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype5.0225Citations (PDF)
208Novel Risk Loci for Rheumatoid Arthritis in Han Chinese and Congruence With Risk Variants in Europeans
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209Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases
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211Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations
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212Current Smoking is Associated with Incident Ankylosing Spondylitis — The HUNT Population-based Norwegian Health Study
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213Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
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214Does the microbiome play a causal role in spondyloarthritis?
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215Cardiovascular disease is increased prior to onset of rheumatoid arthritis but not osteoarthritis: the population-based Nord-Trøndelag health study (HUNT)2.913Citations (PDF)
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221Genetic insights into common pathways and complex relationships among immune-mediated diseases
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222A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk
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227Common variants in the HLA-DRB1–HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis
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232Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome
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233Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
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234Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6
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235Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes
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239Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis
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241WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk
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244Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
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249ANKH and Susceptibility to and Severity of Ankylosing Spondylitis
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250Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
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251Excessive bone formation in a mouse model of ankylosing spondylitis is associated with decreases in Wnt pathway inhibitors2.986Citations (PDF)
252A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis
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253A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation
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258β‐glucan triggers spondylarthritis and Crohn's disease–like ileitis in SKG mice
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262The role of IL-17-secreting mast cells in inflammatory joint disease
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263Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA
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271Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
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274Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
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283Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia
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286Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
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287A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
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291A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis
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292Saliva-Derived DNA Performs Well in Large-Scale, High-Density Single-Nucleotide Polymorphism Microarray Studies0.661Citations (PDF)
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299Association of Variants at 1q32 and STAT3 with Ankylosing Spondylitis Suggests Genetic Overlap with Crohn's Disease
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303Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes
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304Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21
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305Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients
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312Partial epilepsy syndrome in a Gypsy family linked to 5q31.3‐q32
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372Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci4.5231Citations (PDF)
373Is resistant hypertension really resistant?1.0155Citations (PDF)
374Cost Effectiveness of Bone Density Measurements1.00Citations (PDF)
375The prevalence and clinical significance of nocturnal hypertension in pregnancy
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376Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians
Tissue Antigens, 2001, 58, 50-54
0.626Citations (PDF)
377Is disease severity in ankylosing spondylitis genetically determined?
Arthritis and Rheumatism, 2001, 44, 1396-1400
6.4112Citations (PDF)
378Genetic Control of Bone Density and Turnover: Role of the Collagen 1α1, Estrogen Receptor, and Vitamin D Receptor Genes3.389Citations (PDF)
379Twenty-four–hour automated blood pressure monitoring as a predictor of preeclampsia2.237Citations (PDF)
380The X‐chromosome and susceptibility to ankylosing spondylitis
Arthritis and Rheumatism, 2000, 43, 1353-1355
6.445Citations (PDF)
381Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis
Genes and Immunity, 2000, 1, 418-422
1.950Citations (PDF)
382The Genetics of Osteoporosis: Future Diagnostic Possibilities1.03Citations (PDF)
383Susceptibility to ankylosing spondylitis2.125Citations (PDF)
384Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis
Human Molecular Genetics, 2000, 9, 1563-1566
2.180Citations (PDF)
385The white coat effect in hypertensive pregnancy: much ado about nothing?2.132Citations (PDF)
386Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis3.3132Citations (PDF)
387Ambulatory blood pressure monitoring in pregnancy: What is normal?2.274Citations (PDF)
388Randomised trial of management of hypertensive pregnancies by Korotkoff phase IV or phase V
Lancet, The, 1998, 352, 777-781
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389Genetic studies of common rheumatological diseases
Rheumatology, 1998, 37, 818-823
1.45Citations (PDF)
390Workers' compensation and chronic regional musculoskeletal pain
Rheumatology, 1998, 37, 815-823
1.418Citations (PDF)
391The role of germline polymorphisms in the T-cell receptor in susceptibility to ankylosing spondylitis2.112Citations (PDF)
392A linkage study across the T cell receptor A and T cell receptor B loci in families with rheumatoid arthritis
Arthritis and Rheumatism, 1997, 40, 1798-1802
6.413Citations (PDF)
393Susceptibility to ankylosing spondylitis in twins the role of genes, HLA, and the environment
Arthritis and Rheumatism, 1997, 40, 1823-1828
6.4600Citations (PDF)
394HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom.6.5236Citations (PDF)
395Hypertension in pregnancy: maternal and fetal outcomes according to laboratory and clinical features
Medical Journal of Australia, 1996, 165, 360-365
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396HLA-B associations of HLA-B27 negative ankylosing spondylitis: Comment on the article by Yamaguchi et al
Arthritis and Rheumatism, 1996, 39, 1768-1769
6.413Citations (PDF)
397Ambulatory blood pressure in pregnancy: Comparison of the Spacelabs 90207 and Accutracker II monitors with intraarterial recordings2.213Citations (PDF)
398Inadequacy of Dipstick Proteinuria in Hypertensive Pregnancy0.979Citations (PDF)
399Plasma Concentrations of Vitellogenin and Sex Steroids in Female Tuatara (Sphenodon punctatus punctatus) from Northern New Zealand1.211Citations (PDF)
400Rheumatic complications of influenza vaccination0.429Citations (PDF)
401Aluminium-related Bone Disease Presenting with Calcaneal Stress Fractures
Rheumatology, 1993, 32, 260-261
1.41Citations (PDF)
402Renin-Aldosterone Relationships in Pregnancy-Induced Hypertension: An Alternative Viewpoint1.084Citations (PDF)
403Pancytopenia after accidental overdose of methotrexate A complication of low‐dose therapy for rheumatoid arthritis
Medical Journal of Australia, 1991, 155, 493-494
1.432Citations (PDF)
404Association of Crohn’s disease-related chromosome 1q32 with ankylosing spondylitis is independent of bowel symptoms and faecal calprotectin
PeerJ, 0, 6, e5088
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405Title is missing!
0
1Citations (PDF)
406Why Do Some Patients Have Severe Sacroiliac Disease But No Syndesmophytes in Ankylosing Spondylitis? Data From a Nested Case-Control Study
Journal of Rheumatology, 0, , jrheum.211230
1.20Citations (PDF)
407The faecal microbiota is distinct in HLA-B27+ ankylosing spondylitis patients versus HLA-B27+ healthy controls3.18Citations (PDF)
408Further Evidence That Chondrocalcinosis 1 ( <scp>CCAL1</scp> ) is a Confirmed Mendelian Phenotype With a Known Molecular Basis1.10Citations (PDF)
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410Medical guidelines for fibrodysplasia ossificans progressiva
JBMR Plus, 0, 9,
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411Long-Term Uveitis Rates with Bimekizumab Treatment Across Pooled Phase 2B and Phase 3 Studies in Patients with Axial Spondyloarthritis or Psoriatic Arthritis: 3-Year Update
Journal of Rheumatology, 0, 53, 53.1-53
1.20Citations (PDF)
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