Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

por Smetana, Jan, Vallova, Vladimira, Wayhelova, Marketa, Hladilkova, Eva, Filkova, Hana, Horinova, Vera, Broz, Petr, Mikulasova, Aneta, Gaillyova, Renata, Kuglík, Petr
Publicado 2021

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report

por Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Machackova, Dominika, Filkova, Hana Dynkova, Smetana, Jan, Takacsova, Alena, Gaillyova, Renata, Kuglik, Petr
Publicado 2023

High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation

por Rico, Daniel, Kent, Daniel, Karataraki, Nefeli, Mikulasova, Aneta, Berlinguer-Palmini, Rolando, Walker, Brian A., Javierre, Biola M., Russell, Lisa J., Brackley, Chris A.
Publicado 2022

Genome-Wide Screening of Cytogenetic Abnormalities in Multiple Myeloma Patients Using Array-CGH Technique: A Czech Multicenter Experience

por Smetana, Jan, Frohlich, Jan, Zaoralova, Romana, Vallova, Vladimira, Greslikova, Henrieta, Kupska, Renata, Nemec, Pavel, Mikulasova, Aneta, Almasi, Martina, Pour, Ludek, Adam, Zdenek, Sandecka, Viera, Zahradová, Lenka, Hajek, Roman, Kuglik, Petr
Publicado 2014

GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1

por Singh, Preeti, Heer, Maninder, Resteu, Anastasia, Mikulasova, Aneta, Reza, Mojgan, Largeaud, Laëtitia, Dufrechou, Stéphanie, Prade, Naïs, Dickinson, Rachel E., Bustamante, Jacinta, Neven, Bénédicte, Bigley, Venetia, Delabesse, Eric, Rico, Daniel, Pasquet, Marlène, Collin, Matthew
Publicado 2021

Structural variants shape the genomic landscape and clinical outcome of multiple myeloma

por Ashby, Cody, Boyle, Eileen M., Bauer, Michael A., Mikulasova, Aneta, Wardell, Christopher P., Williams, Louis, Siegel, Ariel, Blaney, Patrick, Braunstein, Marc, Kaminetsky, David, Keats, Jonathan, Maura, Francesco, Landgren, Ola, Walker, Brian A., Davies, Faith E., Morgan, Gareth J.
Publicado 2022

The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma

por Mikulasova, Aneta, Wardell, Christopher P., Murison, Alexander, Boyle, Eileen M., Jackson, Graham H., Smetana, Jan, Kufova, Zuzana, Pour, Ludek, Sandecka, Viera, Almasi, Martina, Vsianska, Pavla, Gregora, Evzen, Kuglik, Petr, Hajek, Roman, Davies, Faith E., Morgan, Gareth J., Walker, Brian A.
Publicado 2017

Dynamics of broad H3K4me3 domains uncover an epigenetic switch between cell identity and cancer-related genes

por Belhocine, Mohamed, Simonin, Mathieu, Abad Flores, José David, Cieslak, Agata, Manosalva, Iris, Pradel, Lydie, Smith, Charlotte, Mathieu, Eve-Lyne, Charbonnier, Guillaume, Martens, Joost H.A., Stunnenberg, Hendrik G., Maqbool, Muhammad Ahmad, Mikulasova, Aneta, Russell, Lisa J., Rico, Daniel, Puthier, Denis, Ferrier, Pierre, Asnafi, Vahid, Spicuglia, Salvatore
Publicado 2022

Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers

por Mikulasova, Aneta, Kent, Daniel, Trevisan-Herraz, Marco, Karataraki, Nefeli, Fung, Kent T.M., Ashby, Cody, Cieslak, Agata, Yaccoby, Shmuel, van Rhee, Frits, Zangari, Maurizio, Thanendrarajan, Sharmilan, Schinke, Carolina, Morgan, Gareth J., Asnafi, Vahid, Spicuglia, Salvatore, Brackley, Chris A., Corcoran, Anne E., Hambleton, Sophie, Walker, Brian A., Rico, Daniel, Russell, Lisa J.
Publicado 2022

Microhomology-mediated end joining drives complex rearrangements and overexpression of MYC and PVT1 in multiple myeloma

por Mikulasova, Aneta, Ashby, Cody, Tytarenko, Ruslana G., Qu, Pingping, Rosenthal, Adam, Dent, Judith A., Ryan, Katie R., Bauer, Michael A., Wardell, Christopher P., Hoering, Antje, Mavrommatis, Konstantinos, Trotter, Matthew, Deshpande, Shayu, Yaccoby, Shmuel, Tian, Erming, Keats, Jonathan, Auclair, Daniel, Jackson, Graham H., Davies, Faith E., Thakurta, Anjan, Morgan, Gareth J., Walker, Brian A.
Publicado 2020

Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities

por Oben, Bénedith, Froyen, Guy, Maclachlan, Kylee H., Leongamornlert, Daniel, Abascal, Federico, Zheng-Lin, Binbin, Yellapantula, Venkata, Derkach, Andriy, Geerdens, Ellen, Diamond, Benjamin T., Arijs, Ingrid, Maes, Brigitte, Vanhees, Kimberly, Hultcrantz, Malin, Manasanch, Elisabet E., Kazandjian, Dickran, Lesokhin, Alexander, Dogan, Ahmet, Zhang, Yanming, Mikulasova, Aneta, Walker, Brian, Morgan, Gareth, Campbell, Peter J., Landgren, Ola, Rummens, Jean-Luc, Bolli, Niccolò, Maura, Francesco
Publicado 2021

Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis

por Chyra, Zuzana, Sevcikova, Tereza, Vojta, Petr, Puterova, Janka, Brozova, Lucie, Growkova, Katerina, Filipova, Jana, Zatopkova, Martina, Grosicki, Sebastian, Barchnicka, Agnieszka, Wiktor-Jedrzejczak, Wieslaw, Waszczuk-Gajda, Anna, Jungova, Alexandra, Mikulasova, Aneta, Hajduch, Marian, Mokrejs, Martin, Pour, Ludek, Stork, Martin, Harvanova, Lubica, Mistrik, Martin, Mikala, Gabor, Robak, Pawel, Czyz, Anna, Debski, Jakub, Usnarska-Zubkiewicz, Lidia, Jurczyszyn, Artur, Stejskal, Lukas, Morgan, Gareth, Kryukov, Fedor, Budinska, Eva, Simicek, Michal, Jelinek, Tomas, Hrdinka, Matous, Hajek, Roman
Publicado 2020

Molecular characterization and clinical outcome of B-cell precursor acute lymphoblastic leukemia with IG-MYC rearrangement

por Bomken, Simon, Enshaei, Amir, Schwalbe, Edward C., Mikulasova, Aneta, Dai, Yunfeng, Zaka, Masood, Fung, Kent T.M., Bashton, Matthew, Lim, Huezin, Jones, Lisa, Karataraki, Nefeli, Winterman, Emily, Ashby, Cody, Attarbaschi, Andishe, Bertrand, Yves, Bradtke, Jutta, Buldini, Barbara, Burke, G.A. Amos, Cazzaniga, Giovanni, Göhring, Gudrun, de Groot-Kruseman, Hesta A., Haferlach, Claudia, Lo Nigro, Luca, Parihar, Mayur, Plesa, Adriana, Seaford, Emma, Sonneveld, Edwin, Strehl, Sabine, van der Velden, Vincent H.J., Rand, Vikki, Hunger, Stephen P., Harrison, Christine J., Bacon, Chris M., van Delft, Frederik W., Loh, Mignon L., Moppett, John, Vormoor, Josef, Walker, Brian A., Moorman, Anthony V., Russell, Lisa J.
Publicado 2022