Prof. Ing. Stanislav Kmoch, CSc.

Prof. Ing. Stanislav Kmoch, CSc.

1. lékařská fakulta Univerzity Karlovy
Vedoucí výzkumného programu Vývoj léčebných a diagnostických postupů, vedoucí skupiny Genetická a molekulární podstata lidských nemocí

stanislav.kmoch@lf1.cuni.cz
+420325873015
  • Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in
    Prague
  • Head of the research programme Development of Therapeutic and Diagnostic Procedures in
    BIOCEV

Citation report:
Number of articles (according to SCOPUS) : 65
Number of citations (according to SCOPUS) : < 1150
H-index : 20
Number of patents : 2

Stanislav Kmoch (1963) has a long term interest in genetics and biology of human diseases. In his work he has developed and implemented wide array of biochemical, genetic, molecular biology, genomic, nextgeneration sequencing and bioinformatic methods which he succesfully applied in various projects leading to identification of causal genes and characterisation of molecular and structural basis of more than a dozen of genetic diseases. In several cases his work led to the development and application of novel diagnostic methods and therapeutical approaches.

He graduated from the Institute of Chemical Technology in Prague (Faculty of Food and Biochemical Technology, 1988), defended CSc (PhD) thesis at the First Faculty of Medicine, Charles University in Prague (2001). He established and lead the group of medical genomics and bioinformatics at the Institute for Inherited Metabolic Disorders. In last 10 years he was PI of over 10 research and educational projects.

During his carrer he has established intensive international collaboration in research of rare genetic kidney diseases, defects of purine de novo synthesis and neuronal ceroid lipofuscinoses. He is member of the editorial board of the journal Molecular Genetics and Genomic Medicine and member of The American Society of Human Genetics and The American Association for the Advancement of Science.

Nejvýznamnější recentní výsledky: Stanislav Kmoch in PubMed

Nejvýznamnější výsledky

2015

Zikanova M., Krijt J., Skopova V., Krijt M., Baresova V., Kmoch S. 2015. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood. Clin Biochem, 48: 2-7

Jurecka A., Zikanova M., Kmoch S., Tylki-Szymanska A. 2015. Adenylosuccinate lyase deficiency. J Inherit Metab Dis, 38: 231-42

2013

Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M. 2013. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. Clin Biochem 46:1899-1901.

Duval N, Luhrs K, Wilkinson TG, 2nd, Baresova V, Skopova V, Kmoch S, Vacano GN, Zikanova M, Patterson D. 2013. Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders. Mol Genet Metab 108(3):178-89.

2012

Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S. 2012. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum Mol Genet 21(7):1534-43.

2011

Vliet LK, Wilkinson TG, 2nd, Duval N, Vacano G, Graham C, Zikanova M, Skopova V, Baresova V, Hnizda A, Kmoch S and others. 2011. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. Mol Genet Metab 102(1):61-8.

2010

Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. 2010. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat 31(4):445-55.