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Stanislav Kmoch

charles university

48H-index
283Paper Count
7.4KCitation Count
Published Papers 108
Publication Date
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De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity
errNature Communications
IF15.7
err2026-07-01
err0
errOAAI
errAleš Hnízda; Beatriz Martinez-Delgado; Diana Sanchez-Ponce; Javier Alonso; Jeanne Amiel; Tania Attie-Bitach; Ariadna Bada-Navarro; Beatriz Baladron; Eva Bermejo-Sanchez; Vítězslav Brinsa; Ivana Buková; Rosario Cazorla-Calleja; Sylvie Červenková; Shanshan Chow; Petr Dušek; Olha Fedosieieva; Marta Fernandez-Prieto; Sourav Ghosh; Gema Gomez-Mariano; Andrea Gřegořová; Mark James Hamilton; Hana Hartmannová; Esther Hernandez-SanMiguel; Marina Herrero-Matesanz; Kateřina Hodaňová; Alan Kádek; Jennifer Kerkhof; Tjitske Kleefstra; Didier Lacombe; Michael A. Levy; Estrella Lopez-Martin; Ruaud Lyse; Petr Man; Purificacion Marin-Reina; Ellen F. Macnamara; Haley McConkey; Petra Melenovská; Lidia M. Mielu; David Moore; Lenka Steiner Mrázová; Karolína Musilová; Kristýna Neffeová; Petr Nickl; David Pajuelo Reguera; Martina Pavlíková; Lea Pavlovičová; Manuel Posada; Jan Procházka; Kateryna Pysanenko; Sheila Ramos del Saz; Dmitrijs Rots; Jessica Rzasa; Radislav Sedláček; Viktor Stránecký; František Špoutil; Matthew L. Tedder; Louise Thompson; Cynthia J. Tifft; Frederic Tran Mau-Them; Helena Trešlová; Antonio Vitobello; Sarah Hilton; Christopher Campbell; Siddharth Banka; Daniel Jirák; Bekim Sadikovic; Jakub Sikora; Stanislav Kmoch; Maria J. Barrero; Lenka Nosková
errShare
errSave
Thin glomerular basement membrane phenotypes with no identified pathogenic COL4A3/A4/A5 variant
errKidney International Reports
IF5.7
err2026-04-28
err0
errOAAI
errCristian V. Riella; Dan A. Colombo; Helmut G. Rennke; Astrid Weins; Seymour Rosen; Meei-Hua Lin; Teija Suhas; Isaac E. Stillmann; Yael K. Heher; Giada Bianchi; Martina Zivna; Anthony J. Bleyer; Stanislav Kmoch; Weining Lu; Jeffrey H. Miner; Peter G. Czarnecki
errShare
errSave
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2026-04-02
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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errSave
Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease
errKidney360
IF3
err2026-02-01
err0
PREAI
errMusalkova, Dita; Radina, Martin; Kidd, Kendrah; Hartmannova, Hana; Treslova, Helena; Hodanova, Katerina; Vyletal, Petr; Vrbacka, Alena; Votruba, Miroslav; Sanchez, Antonio; Martin, Lauren; Taylor, Abbigail; Kim, Alice; Kulhava, Lucie Rudl; Hricko, Jiri; Cajka, Tomas; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav
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errSave
Differential regulation of gene co-expression modules in muscles and liver of preterm newborns
errFrontiers in Cell and Developmental Biology
IF4.3
err2025-09-30
err0
errOAAI
errPetra Janovska†; Tatyana Kobets†; Lenka Steiner Mrazova; Michaela Svobodova; Marketa Tesarova; Pavel Kopecky; Petr Zouhar; Martin Rossmeisl; Viktor Stranecky; Stanislav Kmoch; Jan Kopecky
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errSave
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
errAmerican Journal of Kidney Diseases
IF8.2
err2025-08-18
err0
PREAI
errAnthony J. Bleyer; Kendrah O. Kidd; Martina Živná; Stanislav Kmoch
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errSave
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2025-06-25
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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errSave
Characterization of Monogenic Kidney Disease in Older Patients With CKD
errKidney International Reports
IF5.7
err2025-04-22
err0
errOAAI
errElhussein A.E. Elhassan; Sarah Cormican; Shohdan M. Osman; Sahin Sarihan; Omri Teltsh; Fergus E. Poynton; Matthew D. Griffin; Liam Casserly; Emma McCann; Anthony J. Bleyer; Stanislav Kmoch; Martina Živná; Katherine A. Benson; Gianpiero L. Cavalleri; Peter J. Conlon
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errSave
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease ( vol 18 , e0288907 , 2023)
errPLOS ONE
IF2.6
err2025-01-30
err0
errOAAI
errNeroldova, Magdalena; Ciara, Elzbieta; Slatinska, Janka; Frankova, Sona; Liskova, Petra; Kotalova, Radana; Globinovska, Janka; Safarikova, Marketa; Pfeiferova, Lucie; Zunova, Hana; Mrazova, Lenka; Stranecky, Viktor; Vrbacka, Alena; Fabian, Ondrej; Sticova, Eva; Skanderova, Daniela; Sperl, Jan; Kalousova, Marta; Zima, Tomas; Macek, Milan; Pawlowska, Joanna; Knisely, A. S.; Kmoch, Stanislav; Jirsa, Milan
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errSave
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-11-27
err0
errOAAI
errWeng, Wen-Chin; Skopova, Vaclava; Baresova, Veronika; Liu, Yao-Lin; Hsueh, Hsueh-Wen; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Souckova, Olga; Hnizda, Ales; Kmoch, Stanislav; Lee, Ni-Chung; Zikanova, Marie
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errSave
Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome
errCOMMUNICATIONS BIOLOGY
IF5.1
err2024-09-11
err0
errOAAI
errPecina, Petr; Cunatova, Kristyna; Kaplanova, Vilma; Puertas-Frias, Guillermo; Silhavy, Jan; Tauchmannova, Katerina; Vrbacky, Marek; Cajka, Tomas; Gahura, Ondrej; Hlavackova, Marketa; Stranecky, Viktor; Kmoch, Stanislav; Pravenec, Michal; Houstek, Josef; Mracek, Tomas; Pecinova, Alena
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errSave
Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis
errBIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
err2024-09-01
err0
PREAI
errStufkova, Hana; Majer, Filip; Hanak, Petr; Noskova, Lenka; Stranecky, Viktor; Rychtarova, Lucie; Ferdinandusse, Sacha; Krizova, Jana; Hansikova, Hana; Tesarova, Marketa; Kmoch, Stanislav; Kolarova, Hana; Honzik, Tomas; Sikora, Jakub
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errSave
Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome
errBIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
err2024-09-01
err0
PREAI
errPecina, Petr; Cunatova, Kristyna; Kaplanova, Vilma; Puertas, Guillermo; Silhavy, Jan; Vrbacky, Marek; Tauchmannova, Katerina; Cajka, Tomas; Gahura, Ondrej; Hlavackova, Marketa; Kmoch, Stanislav; Pravenec, Michal; Houstek, Josef; Mracek, Tomas; Pecinova, Alena
errShare
errSave
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy
errESC HEART FAILURE
IF3.7
err2024-08-11
err0
errOAAI
errKubanek, Milos; Binova, Jana; Piherova, Lenka; Krebsova, Alice; Kotrc, Martin; Hartmannova, Hana; Hodanova, Katerina; Musalkova, Dita; Stranecky, Viktor; Palecek, Tomas; Chaloupka, Anna; Grochova, Ilga; Krejci, Jan; Petrkova, Jana; Melenovsky, Vojtech; Kmoch, Stanislav; Kautzner, Josef
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A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2024-07-01
err2
errOAAI
errElhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina
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errSave
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2024-05-01
err5
errOAAI
errFages, Victor; Bourre, Florentin; Larrue, Romain; Wenzel, Andrea; Gibier, Jean-Baptiste; Bonte, Fabrice; Dhaenens, Claire -Marie; Kidd, Kendrah; Kmoch, Stanislav; Bleyer, Anthony; Glowacki, Francois; Grunewald, Olivier
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errSave
ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder
errSCIENTIFIC REPORTS
IF3.9
err2024-04-23
err2
errOAAI
errPrzyklenk, Matthias; Karmacharya, Shreya; Bonasera, Debora; Pasanen-Zentz, Arthur-Lauri; Kmoch, Stanislav; Paulsson, Mats; Wagener, Raimund; Liccardi, Gianmaria; Schiavinato, Alvise
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errSave
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
errKIDNEY INTERNATIONAL
IF12.6
err2024-04-01
err3
errOAAI
errKmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, Viktor; Robins, Victoria C.; Taylor, Abbigail; Martin, Lauren; Rivas-Chavez, Ana; Payne, Riley; Bleyer, Heidi A.; Williams, Adrienne; Rennke, Helmut G.; Weins, Astrid; Short, Patrick J.; Agrawal, Varun; Storsley, Leroy J.; Waikar, Sushrut S.; McPhail, Ellen D.; Dasari, Surendra; Leung, Nelson; Hewlett, Tom; Yorke, Jake; Gaston, Daniel; Geldenhuys, Laurette; Samuels, Mark; Levine, Adam P.; West, Michael; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav
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errSave
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
errHUMAN MUTATION
IF3.7
err2024-01-04
err0
errOAAI
errDudakova, Lubica; Noskova, Lenka; Kmoch, Stanislav; Filipec, Martin; Filous, Ales; Davidson, Alice E.; Toulis, Vasileios; Jedlickova, Jana; Skalicka, Pavlina; Hartmannova, Hana; Stranecky, Viktor; Drabova, Jana; Novotna, Drahuse; Havlovicova, Marketa; Sedlacek, Zdenek; Liskova, Petra
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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
errGENETICS IN MEDICINE
IF6.2
err2023-11-01
err1
errOAAI
errWaterham, Hans R.; Koster, Janet; Ebberink, Merel S.; Jesina, Pavel; Zeman, Jiri; Noskova, Lenka; Kmoch, Stanislav; Devic, Perrine; Cheillan, David; Wanders, Ronald J. A.; Ferdinandusse, Sacha
errShare
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Research Directions

No research directions
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