A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

by Sen, Partha, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Navarro, Colby, Silva, Iris, Langston, Claire, Welty, Stephen, Belmont, John, Stankiewicz, Pawel
Published 2013

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

by Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Published in Sci Rep (2021)

Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

by Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Published in Sci Rep (2021)

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

by Li, Xinzhong, Buckton, Andrew J., Wilkinson, Samuel L., John, Shibu, Walsh, Roddy, Novotny, Tomas, Valaskova, Iveta, Gupta, Manu, Game, Laurence, Barton, Paul J R., Cook, Stuart A., Ware, James S.
Published 2013

Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress

by Jelinkova, Sarka, Fojtik, Petr, Kohutova, Aneta, Vilotic, Aleksandra, Marková, Lenka, Pesl, Martin, Jurakova, Tereza, Kruta, Miriama, Vrbsky, Jan, Gaillyova, Renata, Valášková, Iveta, Frák, Ivan, Lacampagne, Alain, Forte, Giancarlo, Dvorak, Petr, Meli, Albano C., Rotrekl, Vladimir
Published in Cells (2019)

Organoids as a Personalized Medicine Tool for Ultra-Rare Mutations in Cystic Fibrosis: the Case of S955P and 1717–2A>G

by Silva, Iris AL, Doušová, Tereza, Ramalho, Sofia, Centeio, Raquel, Clarke, Luka A, Railean, Violeta, Botelho, Hugo M, Holubová, Andrea, Valášková, Iveta, Yeh, Jiunn-Tyng, Hwang, Tzyh-Chang, Farinha, Carlos M., Kunzelmann, Karl, Amaral, Margarida D
Published in Biochim Biophys Acta Mol Basis Dis (2020)

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

by Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Lea F., Poisson, Virginie, Bérubé, Denis, Oligny, Luc L., Michaud, Jacques L., Popek, Edwina, Stankiewicz, Paweł
Published in Hum Genet (2019)

Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

by Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick, Garvin, Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Rob M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Published 2013