| Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis MD Mayes, L Bossini-Castillo, O Gorlova, JE Martin, X Zhou, WV Chen, ... The American Journal of Human Genetics 94 (1), 47-61, 2014 | 248 | 2014 |
| Angioimmunoblastic T cell lymphoma: novel molecular insights by mutation profiling M Wang, S Zhang, SS Chuang, M Ashton-Key, E Ochoa, N Bolli, ... Oncotarget 8 (11), 17763, 2017 | 47 | 2017 |
| Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4‐34 usage in mucosa‐associated lymphoid tissue … S Moody, L Escudero‐Ibarz, M Wang, A Clipson, E Ochoa Ruiz, ... The Journal of Pathology 243 (1), 3-8, 2017 | 36 | 2017 |
| PrimerPooler: automated primer pooling to prepare library for targeted sequencing SS Brown, YW Chen, M Wang, A Clipson, E Ochoa, MQ Du Biol Methods Protoc, 2017 | 28 | 2017 |
| LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, ... PLoS One 11 (1), e0146990, 2016 | 28 | 2016 |
| A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease D González-Serna, E Ochoa, E López-Isac, A Julià, F Degenhardt, ... Scientific reports 10 (1), 1862, 2020 | 26 | 2020 |
| Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus E Ochoa, M Iriondo, A Bielsa, G Ruiz-Irastorza, A Estonba, AM Zubiaga PLoS One 8 (7), e67897, 2013 | 20 | 2013 |
| SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice RT Casey, R Ten Hoopen, E Ochoa, BG Challis, J Whitworth, PS Smith, ... Scientific Reports 9 (1), 10244, 2019 | 16 | 2019 |
| Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders S Lee, E Ochoa, K Barwick, L Cif, F Rodger, F Docquier, B Pérez-Dueñas, ... Epigenomics 14 (9), 537-547, 2022 | 13 | 2022 |
| Mutation screening using formalin-fixed paraffin-embedded tissues: a stratified approach according to DNA quality F Cucco, A Clipson, H Kennedy, J Sneath Thompson, M Wang, S Barrans, ... Laboratory Investigation 98 (8), 1084-1092, 2018 | 13 | 2018 |
| Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis E Ochoa, JE Martin, S Assasi, L Beretta, P Carreira, A Guillén, CP Simeón, ... Clin Exp Rheumatol 33 (4 Suppl 91), S31-5, 2015 | 13 | 2015 |
| ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance E Ochoa, S Lee, B Lan-Leung, RP Dias, KK Ong, JA Radley, ... Genetics in Medicine 24 (2), 463-474, 2022 | 11 | 2022 |
| MethylCal: Bayesian calibration of methylation levels E Ochoa, V Zuber, N Fernandez-Jimenez, JR Bilbao, GR Clark, ER Maher, ... Nucleic Acids Research 47 (14), e81-e81, 2019 | 5 | 2019 |
| Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders S Lee, L Menzies, E Hay, E Ochoa, F Docquier, F Rodger, C Deshpande, ... Human Molecular Genetics 32 (22), 3123-3134, 2023 | 4 | 2023 |
| Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome S Lee, E Ochoa, M Badura-Stronka, D Donnelly, D Lederer, SA Lynch, ... European Journal of Human Genetics 31 (9), 1040-1047, 2023 | 4 | 2023 |
| Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach L Bilo, E Ochoa, S Lee, D Dey, I Kurth, F Kraft, F Rodger, F Docquier, ... Clinical epigenetics 15 (1), 35, 2023 | 4 | 2023 |
| Alteration of genomic imprinting after assisted reproductive technologies and long-term health E Ochoa Life 11 (8), 728, 2021 | 3 | 2021 |
| Accurate measurement of DNA Methylation: challenges and bias correction E Ochoa, V Zuber, L Bottolo Epigenome-Wide Association Studies: Methods and Protocols, 25-47, 2022 | 1 | 2022 |
| Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders S Lee, L Menzies, E Hay, E Ochoa, F Docquier, F Rodger, C Deshpande, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 459-460, 2024 | | 2024 |
| Comparison of methylation epi-signatures in KMT2B and KMT2D-related human disorders S Lee, E Ochoa, K Barwick, L Cif, F Rodger, F Docquier, B Perez, S Banka, ... European Journal of Human Genetics 31, 447-448, 2023 | | 2023 |
Eamonn MaherUniversity of CambridgeAdresse e-mail validée de medschl.cam.ac.uk
