Mutation screening using formalin-fixed paraffin-embedded tissues: a stratified approach according to DNA quality
Cucco, Francesco, Clipson, Alexandra, Kennedy, Hannah, Sneath Thompson, Joe, Wang, Ming, Barrans, Sharon, van Hoppe, Moniek, Ochoa Ruiz, Eguzkine, Caddy, Josh, Hamid, Debbie, Cummin, Thomas, Burton, Cathy, Davies, Andrew J, Johnson, Peter, Du, Ming-Qing
Published in Laboratory investigation (01.08.2018)
Published in Laboratory investigation (01.08.2018)
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Journal Article
LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers
Ochoa, Eguzkine, Iriondo, Mikel, Manzano, Carmen, Fullaondo, Asier, Villar, Irama, Ruiz-Irastorza, Guillermo, Zubiaga, Ana M, Estonba, Andone
Published in PloS one (28.01.2016)
Published in PloS one (28.01.2016)
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Journal Article
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance
Ochoa, Eguzkine, Lee, Sunwoo, Lan-Leung, Benoit, Dias, Renuka P., Ong, Ken K., Radley, Jessica A., Pérez de Nanclares, Gustavo, Martinez, Rosa, Clark, Graeme, Martin, Ezequiel, Castaño, Luis, Bottolo, Leonardo, Maher, Eamonn R.
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice
Casey, Ruth T., ten Hoopen, Rogier, Ochoa, Eguzkine, Challis, Benjamin G., Whitworth, James, Smith, Philip S., Martin, Jose Ezequiel, Clark, Graeme R., Rodger, Fay, Maranian, Mel, Allinson, Kieren, Madhu, Basetti, Roberts, Thomas, Campos, Luis, Anstee, Joanne, Park, Soo-Mi, Marker, Alison, Watts, Colin, Bulusu, Venkata R., Giger, Olivier T., Maher, Eamonn R.
Published in Scientific reports (15.07.2019)
Published in Scientific reports (15.07.2019)
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Journal Article
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
Bilo, Larissa, Ochoa, Eguzkine, Lee, Sunwoo, Dey, Daniela, Kurth, Ingo, Kraft, Florian, Rodger, Fay, Docquier, France, Toribio, Ana, Bottolo, Leonardo, Binder, Gerhard, Fekete, György, Elbracht, Miriam, Maher, Eamonn R, Begemann, Matthias, Eggermann, Thomas
Published in Clinical epigenetics (01.03.2023)
Published in Clinical epigenetics (01.03.2023)
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Journal Article
Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus
Ochoa, Eguzkine, Iriondo, Mikel, Bielsa, Ana, Ruiz-Irastorza, Guillermo, Estonba, Andone, Zubiaga, Ana M
Published in PloS one (03.07.2013)
Published in PloS one (03.07.2013)
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Journal Article
Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4‐34 usage in mucosa‐associated lymphoid tissue lymphoma
Moody, Sarah, Escudero‐Ibarz, Leire, Wang, Ming, Clipson, Alexandra, Ochoa Ruiz, Eguzkine, Dunn‐Walters, Deborah, Xue, Xuemin, Zeng, Naiyan, Robson, Alistair, Chuang, Shih‐Sung, Cogliatti, Sergio, Liu, Hongxiang, Goodlad, John, Ashton‐Key, Margaret, Raderer, Markus, Bi, Yingwen, Du, Ming‐Qing
Published in The Journal of pathology (01.09.2017)
Published in The Journal of pathology (01.09.2017)
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Journal Article
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Lee, Sunwoo, Ochoa, Eguzkine, Badura-Stronka, Magdalena, Donnelly, Deirdre, Lederer, Damien, Lynch, Sally A, Gardham, Alice, Morton, Jenny, Stewart, Helen, Docquier, France, Rodger, Fay, Martin, Ezequiel, Toribio, Ana, Maher, Eamonn R, Balasubramanian, Meena
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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Journal Article
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders
Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R
Published in Human molecular genetics (03.11.2023)
Published in Human molecular genetics (03.11.2023)
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Journal Article
MethylCal: Bayesian calibration of methylation levels
Ochoa, Eguzkine, Zuber, Verena, Fernandez-Jimenez, Nora, Bilbao, Jose Ramon, Clark, Graeme R, Maher, Eamonn R, Bottolo, Leonardo
Published in Nucleic acids research (22.08.2019)
Published in Nucleic acids research (22.08.2019)
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Journal Article
Angioimmunoblastic T cell lymphoma: novel molecular insights by mutation profiling
Wang, Ming, Zhang, Shaowei, Chuang, Shih-Sung, Ashton-Key, Margaret, Ochoa, Eguzkine, Bolli, Niccolo, Vassiliou, George, Gao, Zifen, Du, Ming-Qing
Published in Oncotarget (14.03.2017)
Published in Oncotarget (14.03.2017)
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Journal Article
Comparison of methylation episignatures in KMT2B - and KMT2D -related human disorders
Lee, Sunwoo, Ochoa, Eguzkine, Barwick, Katy, Cif, Laura, Rodger, Fay, Docquier, France, Pérez-Dueñas, Belén, Clark, Graeme, Martin, Ezequiel, Banka, Siddharth, Kurian, Manju A, Maher, Eamonn R
Published in Epigenomics (01.05.2022)
Published in Epigenomics (01.05.2022)
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Journal Article
PrimerPooler: automated primer pooling to prepare library for targeted sequencing
Brown, Silas S, Chen, Yun-Wen, Wang, Ming, Clipson, Alexandra, Ochoa, Eguzkine, Du, Ming-Qing
Published in Biology methods and protocols (01.01.2019)
Published in Biology methods and protocols (01.01.2019)
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Journal Article
PrimerPooler: automated primer pooling to prepare library for targeted sequencing
Brown, Silas S., Chen, Yun-Wen, Wang, Ming, Clipson, Alexandra, Ochoa, Eguzkine, Du, Ming-Qing
Published in Biology methods and protocols (01.01.2017)
Published in Biology methods and protocols (01.01.2017)
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Journal Article
LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers: e0146990
Ochoa, Eguzkine, Iriondo, Mikel, Manzano, Carmen, Fullaondo, Asier, Villar, Irama, Ruiz-Irastorza, Guillermo, Zubiaga, Ana M, Estonba, Andone
Published in PloS one (01.01.2016)
Published in PloS one (01.01.2016)
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