Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

por 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
Publicado 2023

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

por 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
Publicado 2023

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

por Luchetti, Andrea, Walsh, Diana, Rodger, Fay, Clark, Graeme, Martin, Tom, Irving, Richard, Sanna, Mario, Yao, Masahiro, Robledo, Mercedes, Neumann, Hartmut P. H., Woodward, Emma R., Latif, Farida, Abbs, Stephen, Martin, Howard, Maher, Eamonn R.
Publicado 2015

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort

por Winzeler, Bettina, Tufton, Nicola, S. Lim, Eugenie, Challis, Ben G., Park, Soo‐Mi, Izatt, Louise, Carroll, Paul V., Velusamy, Anand, Hulse, Tony, Whitelaw, Benjamin C., Martin, Ezequiel, Rodger, Fay, Maranian, Melanie, Clark, Graeme R., A. Akker, Scott, Maher, Eamonn R., Casey, Ruth T.
Publicado 2021

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

por 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.
Publicado 2019

Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

por 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, van Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R
Publicado 2023

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

por Casey, Ruth T., Warren, Anne Y., Martin, Jose Ezequiel, Challis, Benjamin G., Rattenberry, Eleanor, Whitworth, James, Andrews, Katrina A., Roberts, Thomas, Clark, Graeme R., West, Hannah, Smith, Philip S., Docquier, France M., Rodger, Fay, Murray, Vicki, Simpson, Helen L., Wallis, Yvonne, Giger, Olivier, Tran, Maxine, Tomkins, Susan, Stewart, Grant D., Park, Soo-Mi, Woodward, Emma R., Maher, Eamonn R.
Publicado 2017