Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

by Jakub Sikora, Ivana Jedlickova, Anna Pristoupilova, Viktor Stranecky, Tomas Honzik
Published 2021-04-01

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated pheno...

by Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
Published 2017-06-01

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

by Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova
Published 2020-01-01

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

by Anna Chaloupka, Lenka Piherova, Ilga Grochova, Jana Binova, Jan Krejci, Lenka Spinarova, Viktor Stranecky, Stanislav Kmoch, Milos Kubanek
Published 2019-12-01

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

by Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek
Published 2019-09-01

Molecular Fingerprints of Borderline Changes in Kidney Allografts Are Influenced by Donor Category

by Petra Hruba, Zdenek Krejcik, Michaela Dostalova Merkerova, Jiri Klema, Viktor Stranecky, Janka Slatinska, Jana Maluskova, Eva Honsova, Ondrej Viklicky, Ondrej Viklicky
Published 2020-03-01

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function <i>ZEB1</i> Alleles

by Lubica Dudakova, Viktor Stranecky, Lenka Piherova, Tomas Palecek, Nikolas Pontikos, Stanislav Kmoch, Pavlina Skalicka, Manuela Vaneckova, Alice E. Davidson, Petra Liskova
Published 2021-04-01

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

by Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Published 2020-07-01

LncRNA Profiling Reveals That the Deregulation of H19, WT1-AS, TCL6, and LEF1-AS1 Is Associated with Higher-Risk Myelodysplastic Syndrome

by Katarina Szikszai, Zdenek Krejcik, Jiri Klema, Nikoleta Loudova, Andrea Hrustincova, Monika Belickova, Monika Hruba, Jitka Vesela, Viktor Stranecky, David Kundrat, Pavla Pecherkova, Jaroslav Cermak, Anna Jonasova, Michaela Dostalova Merkerova
Published 2020-09-01

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

by Jana Soukupova, Petra Zemankova, Klara Lhotova, Marketa Janatova, Marianna Borecka, Lenka Stolarova, Filip Lhota, Lenka Foretova, Eva Machackova, Viktor Stranecky, Spiros Tavandzis, Petra Kleiblova, Michal Vocka, Hana Hartmannova, Katerina Hodanova, Stanislav Kmoch, Zdenek Kleibl
Published 2018-01-01

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes

by Lenka Stolarova, Sandra Jelinkova, Radka Storchova, Eva Machackova, Petra Zemankova, Michal Vocka, Ondrej Kodet, Jan Kral, Marta Cerna, Zuzana Volkova, Marketa Janatova, Jana Soukupova, Viktor Stranecky, Pavel Dundr, Lenka Foretova, Libor Macurek, Petra Kleiblova, Zdenek Kleibl
Published 2020-10-01

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

by Miloš Kubánek, Tereza Schimerová, Lenka Piherová, Andreas Brodehl, Alice Krebsová, Sandra Ratnavadivel, Caroline Stanasiuk, Hana Hansíková, Jiří Zeman, Tomáš Paleček, Josef Houštěk, Zdeněk Drahota, Hana Nůsková, Jana Mikešová, Josef Zámečník, Milan Macek, Petr Ridzoň, Jana Malusková, Viktor Stránecký, Vojtěch Melenovský, Hendrik Milting, Stanislav Kmoch
Published 2020-03-01

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

by Klara Lhotova, Lenka Stolarova, Petra Zemankova, Michal Vocka, Marketa Janatova, Marianna Borecka, Marta Cerna, Sandra Jelinkova, Jan Kral, Zuzana Volkova, Marketa Urbanova, Petra Kleiblova, Eva Machackova, Lenka Foretova, Jana Hazova, Petra Vasickova, Filip Lhota, Monika Koudova, Leona Cerna, Spiros Tavandzis, Jana Indrakova, Lucie Hruskova, Marcela Kosarova, Radek Vrtel, Viktor Stranecky, Stanislav Kmoch, Michal Zikan, Libor Macurek, Zdenek Kleibl, Jana Soukupova
Published 2020-04-01

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

by Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
Published 2018-11-01

POLRMT mutations impair mitochondrial transcription causing neurological disease

by Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
Published 2021-02-01