Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation

Por Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Publicado em 2014

Mutations in ANTXR1 Cause GAPO Syndrome

Por Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
Publicado em 2013

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Por Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav
Publicado em 2009

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado no Am J Hum Genet (2016)

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Por Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Publicado em 2013