Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Olga Gorlova , Jose-Ezequiel Martin , Blanca Rueda , Bobby PC Koeleman
PLoS Genetics 7 ( 7) e1002178

172
2011
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

Jose-Ezequiel Martin , Shervin Assassi , Lina-Marcela Diaz-Gallo , Jasper C Broen
Human Molecular Genetics 22 ( 19) 4021 -4029

110
2013
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

Lara Bossini-Castillo , Jose-Ezequiel Martin , Jasper Broen , Olga Gorlova
Human Molecular Genetics 21 ( 4) 926 -933

63
2012
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up

Jose-Ezequiel Martin , Jasper C. Broen , F. David Carmona , Maria Teruel
Human Molecular Genetics 21 ( 12) 2825 -2835

74
2012
2023
Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells

Victoria Mulcahy , Evaggelia Liaskou , Jose-Ezequiel Martin , Prasanti Kotagiri
Hepatology Communications 7 ( 4) e0110 -e0110

2023
Tamoxifen for the treatment of myeloproliferative neoplasms: A Phase II clinical trial and exploratory analysis

Zijian Fang , Giuditta Corbizi Fattori , Thomas McKerrell , Rebecca H Boucher
Nature Communications 14 ( 1) 7725 -7725

1
2023
A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.

F David Carmona , Sarah L Mackie , Jose-Ezequiel Martín , John C Taylor
American Journal of Human Genetics 96 ( 4) 565 -580

156
2015
Identification of the oxidative stress-related gene MSRA as a rheumatoid arthritis susceptibility locus by genome-wide pathway analysis.

Jose-Ezequiel Martín , Behrooz Z. Alizadeh , Miguel A. González-Gay , Alejandro Balsa
Arthritis & Rheumatism 62 ( 11) 3183 -3190

13
2010
Cross-disease meta-analysis of genome-wide association studies for systemic sclerosis and rheumatoid arthritis reveals irf4 as a new common susceptibility locus

Elena López-Isac , Jose-Ezequiel Martín , Shervin Assassi , Carmen P Simeón
Arthritis & rheumatology (Hoboken, NJ) 68 ( 9) 2338 -2338

5
2016
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

Maureen D Mayes , Lara Bossini-Castillo , Olga Gorlova , José Ezequiel Martin
American Journal of Human Genetics 94 ( 1) 47 -61

130
2014
Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus.

María Teruel , Jose-Ezequiel Martin , Norberto Ortego-Centeno , Juan Jiménez-Alonso
Human Immunology 73 ( 1) 107 -110

10
2012
Association of acid phosphatase locus 1*C allele with the risk of cardiovascular events in rheumatoid arthritis patients.

María Teruel , Jose-Ezequiel Martin , Carlos González-Juanatey , Raquel López-Mejias
Arthritis Research & Therapy 13 ( 4) 1 -6

21
2011
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

Marialbert Acosta-Herrera , Martin Kerick , David González-Serna , Cisca Wijmenga
Annals of the Rheumatic Diseases 78 ( 3) 311 -319

33
2019
Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis

Eguzkine Ochoa , José-Ezequiel Martin , Shervin Assasi , Lorenzo Beretta
Clin Exp Rheumatol 33 ( 4 Suppl 91) S31 -5

13
2015
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

Lara Bossini-Castillo , Jose Ezequiel Martin , Jasper Broen , Carmen P Simeon
Annals of the rheumatic diseases annrheumdis -annrheumdis

70
2012
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

Eamonn R Maher , James Whitworth , Ruth T Casey , Nihr BioResource
European Journal of Human Genetics 1 -7

2021
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Ruth T Casey , Anne Y Warren , Jose Ezequiel Martin , Benjamin G Challis
The Journal of Clinical Endocrinology and Metabolism 102 ( 11) 4013 -4022

25
2017
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Ruth T Casey , Rogier Ten Hoopen , Eguzkine Ochoa , Benjamin G Challis
Scientific Reports 9 ( 1) 10244

5
2019