Jakub Sikora

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

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

Top Venues

American journal of medical genetics. Part A

Virchows Archiv : an international journal of pathology

Molecular genetics & genomic medicine

Journal of inherited metabolic disease

1st Faculty of Medicine, Charles University

1st Faculty of Medicine, Charles University (PHD)

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

Affiliation History

1st Faculty of Medicine, Charles University Sep 01 2017

Czechia

assistant professor :: Department of Pediatrics and Adolescent Medicine

Albert Einstein College of Medicine Nov 01 2014

United States

visiting assistant professor :: Dominick P. Purpura Department of Neuroscience

1st Faculty of Medicine, Charles University Jan 01 2008 - Aug 31 2017

Czechia

assistant professor :: Institute of Inherited Metabolic Disorders

Albert Einstein College of Medicine Sep 01 2011 - Aug 31 2014

United States

NRSA post-doctoral fellow :: Dominick P. Purpura Department of Neuroscience

Education History

1st Faculty of Medicine, Charles University Oct 01 2000 - Apr 01 2007

Czechia

PHD :: Institute of Inherited Metabolic Disorders

Publications

Lenka Murgasova, Helena Hulkova, Veronika Baresova, Michal Jurovcik, Jan Stritesky, Katarina Jurickova, Martin Magner, Jakub Sikora
Correction to: Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63 + cells. Virchows Archiv : an international journal of pathology (2024)
Lenka Murgasova, Helena Hulkova, Veronika Baresova, Michal Jurovcik, Jan Stritesky, Katarina Jurickova, Martin Magner, Jakub Sikora
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells. Virchows Archiv : an international journal of pathology (2023)
Martin Řeboun, Jakub Sikora, Martin Magner, Helena Wiederlechnerová, Alena Černá, Helena Poupětová, Gabriela Štorkánova, Dita Mušálková, Gabriela Dostálová, Lubor Goláň, Aleš Linhart, Lenka Dvorakova
Pitfalls of X-chromosome inactivation testing in females with Fabry disease. American journal of medical genetics. Part A 188 (7) (2022)
Jitka Rybova, Ladislav Kuchař, Jakub Sikora, William M McKillop, Jeffrey A Medin
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency. Journal of inherited metabolic disease 45 (6) (2022)
Filip Majer, Jakub Sikora
Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements. Molecular genetics & genomic medicine (2021)
Jakub Sikora, Ivana Jedlickova, Anna Pristoupilova, Viktor Stranecky, Tomas Honzik
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant? Annals of clinical and translational neurology 8 (4) (2021)
Ivana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Helena Hůlková, Jakub Sikora, Lenka Nosková, Dita Mušálková, Petr Vyleťal, Jana Sovová, Patrick Cossette, Eva Andermann, Frederick Andermann, Stanislav Kmoch, null null
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. European journal of human genetics : EJHG 28 (6) (2020)
Bohdan Kousal, Filip Majer, Hana Vlaskova, Lenka Dvorakova, Lenka Piherová, Martin Meliska, Hana Langrová, Tomas Palecek, Milos Kubanek, Alice Krebsova, Jiri Gurka, Veronika Stara, Michel Michaelides, Tomáš Kalina, Jakub Sikora, Petra Liskova
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. Acta ophthalmologica 99 (1) (2020)
Filip Majer, Bohdan Kousal, Petr Dusek, Lenka Piherova, Martin Reboun, Romana Mihalova, Jiri Gurka, Alice Krebsova, Hana Vlaskova, Lenka Dvorakova, Jana Krihova, Petra Liskova, Stanislav Kmoch, Tomas Kalina, Milos Kubanek, Jakub Sikora
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. American journal of medical genetics. Part A 182 (1) (2019)
Filip Majer, Lenka Piherova, Martin Reboun, Veronika Stara, Ondrej Pelak, Patricia Norambuena, Viktor Stranecky, Alice Krebsova, Hana Vlaskova, Lenka Dvorakova, Stanislav Kmoch, Tomas Kalina, Milos Kubanek, Jakub Sikora
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? American journal of medical genetics. Part A 176 (11) (2018)

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Publication Activity (10 Years)

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Jakub Sikora