Stanislav Kmoch

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 6

Top Topics

Top Venues

Genes, brain, and behavior

Molecular genetics & genomic medicine

Proceedings of the National Academy of Sciences of the United States of America

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Dita Mušálková, Anna Přistoupilová, Ivana Jedličková, Hana Hartmannová, Helena Trešlová, Lenka Nosková, Kateřina Hodaňová, Petra Bittmanová, Viktor Stránecký, Václav Jiřička, Michaela Langmajerová, Marc Woodbury-Smith, Mehdi Zarrei, Brett Trost, Stephen W Scherer, Anthony J Bleyer, Jan Vevera, Stanislav Kmoch
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder. Genes, brain, and behavior 23 (1) (2024)
Dita Mušálková, Anna Přistoupilová, Ivana Jedličková, Hana Hartmannová, Helena Trešlová, Lenka Nosková, Kateřina Hodaňová, Petra Bittmanová, Viktor Stránecký, Václav Jiřička, Michaela Langmajerová, Marc Woodbury-Smith, Mehdi Zarrei, Brett Trost, Stephen W Scherer, Anthony J Bleyer, Jan Vevera, Stanislav Kmoch
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder. Genes, brain, and behavior 23 (1) (2024)
Yeawon Kim, Chuang Li, Chenjian Gu, Yili Fang, Eric Tycksen, Anuradhika Puri, Terri A Pietka, Jothilingam Sivapackiam, Kendrah Kidd, Sun-Ji Park, Bryce G Johnson, Stanislav Kmoch, Jeremy S Duffield, Anthony J Bleyer, Meredith E Jackrel, Fumihiko Urano, Vijay Sharma, Maria Lindahl, Ying Maggie Chen
MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice. Nature communications 14 (1) (2023)
Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A E Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G Fuster, Andreas David Kistler, Ian J Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, null null, Kai Uwe Eckardt, Anthony J Bleyer, Anna Köttgen, Peter J Conlon, Michael S Wiesener, John Andrew Sayer, Luca Rampoldi, Olivier Devuyst
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 119 (33) (2022)
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
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Molecular genetics & genomic medicine 8 (7) (2020)
Jan Vevera, Mehdi Zarrei, Hana Hartmannová, Ivana Jedličková, Dita Mušálková, Anna Přistoupilová, Petra Oliveriusová, Helena Trešlová, Lenka Nosková, Kateřina Hodaňová, Viktor Stránecký, Václav Jiřička, Marek Preiss, Kateřina Příhodová, Jana Šaligová, John Wei, Marc Woodbury-Smith, Anthony J Bleyer, Stephen W Scherer, Stanislav Kmoch
Rare copy number variation in extremely impulsively violent males. Genes, brain, and behavior 18 (6) (2018)