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

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A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation by Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova

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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability by Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

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Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome by Petr Pecina, Kristýna Čunátová, Vilma Kaplanová, Guillermo Puertas-Frias, Jan Šilhavý, Kateřina Tauchmannová, Marek Vrbacký, Tomáš Čajka, Ondřej Gahura, Markéta Hlaváčková, Viktor Stránecký, Stanislav Kmoch, Michal Pravenec, Josef Houštěk, Tomáš Mráček, Alena Pecinová

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Genotype is associated with left ventricular reverse remodelling and early events in recent‐onset dilated cardiomyopathy by Milos Kubanek, Jana Binova, Lenka Piherova, Alice Krebsova, Martin Kotrc, Hana Hartmannova, Katerina Hodanova, Dita Musalkova, Viktor Stranecky, Tomas Palecek, Anna Chaloupka, Ilga Grochova, Jan Krejci, Jana Petrkova, Vojtech Melenovsky, Stanislav Kmoch, Josef Kautzner

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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

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Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure by Barbora Judita Kasperova, Milos Mraz, Petr Svoboda, Daniel Hlavacek, Helena Kratochvilova, Istvan Modos, Nikola Vrzackova, Peter Ivak, Petra Janovska, Tatyana Kobets, Jakub Mahrik, Martin Riecan, Lenka Steiner Mrazova, Viktor Stranecky, Ivan Netuka, Tomas Cajka, Ondrej Kuda, Vojtech Melenovsky, Sona Stemberkova Hubackova, Martin Haluzik

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A comprehensive analysis of germline predisposition to early-onset ovarian cancer by Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, Jana Soukupova

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa

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Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa

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A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition by Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova

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A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer by Jana Soukupova, Barbora Stastna, Madiha Kanwal, Jan Hojny, Petra Zemankova, Marianna Borecka, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Lucie Hruskova, Stepan Chvojka, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marta Kalousova, Petra Kleiblova, Marcela Kosarova, Monika Koudova, Jan Kral, Michaela Krausova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Petr Nehasil, Barbora Nemcova, Jan Novotny, Matous Palek, Pavel Pesek, Marketa Safarikova, Ondrej Scheinost, Drahomira Springer, Lenka Stolarova, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Tomas Zima, Libor Macurek, Zdenek Kleibl, the CZECANCA consortium

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