• RNDr. Martina Putzová, PhD
    RNDr. Martina Putzová, PhD

    molecular geneticist

Forensic expert

RNDr. Putzová were appointed by the Regional Court in Prague as forensic experts in the healthcare industry, specializing in molecular genetics. For more information see Court experts.

List of publications

  1. Melchior L, Hirschmann A, Hofman P, Bontoux C, Concha A, Mrabet-Dahbi S, Vannuffel P, Watkin E, Putzová M, Scarpino S, Cayre A, Martin P, Stoehr R, Hartmann A. Correction to: Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC. Virchows Arch. 2024 Nov;485(5):959. doi: 10.1007/s00428-024-03800-0. PMID: 38639799
  2. Melchior L, Hirschmann A, Hofman P, Bontoux C, Concha A, Mrabet-Dahbi S, Vannuffel P, Watkin E, Putzová M, Scarpino S, Cayre A, Martin P, Stoehr R, Hartmann A. Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC. Virchows Arch. 2024 Apr;484(4):677-686. doi: 10.1007/s00428-024-03778-9. Epub 2024 Mar 16. PMID: 38492039
  3. Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr. The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood. Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023. PMID: 38170106
  4. Putzová M, Hadravská Š, Daumová M. Molecular diagnosis of complete and partial hydatidiform moles. Cesk Patol. 2023 Summer;59(2):64-67. PMID: 37468325
  5. Daumová M, Hadravská Š, Putzová M. Spontaneous abortion in the first trimester of pregnancy. Cesk Patol. 2023 Summer;59(2):60-63. PMID: 37468324
  6. Daumová M, Hadravská Š, Putzová M. Hydatidiform mole. Cesk Patol. 2023 Summer;59(2):50-54. PMID: 37468322
  7. Velasco A, Tokat F, Bonde J, Trim N, Bauer E, Meeney A, de Leng W, Chong G, Dalstein V, Kis LL, Lorentzen JA, Tomić S, Thwaites K, Putzová M, Birnbaum A, Qazi R, Primmer V, Dockhorn-Dworniczak B, Hernández-Losa J, Soares FA, Gertler AA, Kalman M, Wong C, Carraro DM, Sousa AC, Reis RM, Fox SB, Fassan M, Brevet M, Merkelbach-Bruse S, Colling R, Soilleux E, Teo RYW, D'Haene N, Nolet S, Ristimäki A, Väisänen T, Chapusot C, Soruri A, Unger T, Wecgowiec J, Biscuola M, Frattini M, Long A, Campregher PV, Matias-Guiu X. Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer. Virchows Arch. 2021 May;478(5):851-863. doi: 10.1007/s00428-020-02962-x. Epub 2020 Nov 10. PMID: 33170334
  8. Michalova K, McKenney JK, Kristiansen G, Steiner P, Grossmann P, Putzova M, Martinek P, Chottova-Dvorakova M, Michal M, Hes O, Michal M. Novel insights into the mixed germ cell-sex cord stromal tumor of the testis: detection of chromosomal aneuploidy and further morphological evidence supporting the neoplastic nature of the germ cell component. Virchows Arch. 2020 Nov;477(5):615-623. doi: 10.1007/s00428-020-02843-3. Epub 2020 May 23. PMID: 32447491
  9. Hancarova M, Havlovicova M, Putzova M, Vseticka J, Prchalova D, Stranecky V, et al. Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome. Am J Med Genet A. 2019 Oct;179(10):2119-2123. doi:10.1002/ajmg.a.61302. PMID: 31369202.
  10. Brejchova K, Dudakova L, Skalicka P, et al. IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):3084-3090. doi:10.1167/iovs.19-26930. PMID: 31323090.
  11. Arenbergerova M, et al. Targeted treatment of metastatic melanoma in a drug-addicted patient with pre-existing hepatitis C. Dermatol Ther. 2019 Mar;32(2):e12790. doi:10.1111/dth.12790. PMID: 30499152.
  12. Borgulová I, Soldatova I, Putzova M, et al. Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy. J Hum Genet. 2018 Jul;63(7):803-810. doi:10.1038/s10038-018-0444-9. PMID: 29636544.
  13. Borgulová I, Putzová M, Soldatova I, et al. Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis. Med Clin (Barc). 2018;150:215-219. doi:10.1016/j.medcli.2017.06.041. PMID: 28797703.
  14. Putzová M, Hasch M, Gomolčáková B, Šubrt I, Michal M. Výhody využití cíleného sekvenování v neinvazivním prenatálním testování. Actual Gyn. 2017;9:10-13.
  15. Mészárosová AU, Putzová M, Čermáková M, Vávrová D, Doležalová K, Smetanová I, et al. SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. J Hum Genet. 2016 Oct;61(10):845-850. doi:10.1038/jhg.2016.73. PMID: 27334366.
  16. Borgulova I, Putzova M, Soldatova I, Krautova L, Pecnova L, Mika J, et al. Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis. Bratisl Lek Listy. 2015;116(9):542-546. doi:10.4149/bll_2015_103. PMID: 26435019.
  17. Trková M, Putzová M, Bečvářová V, Horáček J, Soldátová I, Krautová L, Sekowská M, Hodačová J, Hnyková L, Hlavová E, Smetanová D, Stejskal D. [Implementation of arrays in first trimester prenatal diagnosis]. Ceska Gynekol. 2015 Jun;80(3):176-180. PMID: 26087211.
  18. Putzova M, Krautova L, Soldatova I, Borgulova I, Krutilkova V, Hejtmankova M, et al. Aneuploidy detection by low-pass whole genome sequencing on the IonProton system. Chromosome Research. 2014 Dec;22(4):607-608.
  19. Bečvářová V, Hynek M, Putzová M, Soldátová I, Horáček J, Smetanová D, Kulovaný E, Matoušková M, Krutílková V, Hejtmánková M, Čutka K, Čutka D, Stejskal D, Mihalová R, Trková M. Aplikace metody SNP array v prenatální diagnostice. Čes Gynek. 2011;76(4):261-267. PMID: 22026066.
  20. Raskova D, Eliasova I, Putzova M, Brandejska M, Mika J, Stejskal D, et al. Preimplantation Diagnosis of Long-Chain 3hydroxyacyl-Coa Dehydrogenase Deficiency (lchad). Journal of Inherited Metabolic Disease. 2011;34:S153-S153.
  21. Stastna S, Putzova M, Rezabek K, Kostalova E, Dvorakova L. Preimplantation Genetic Diagnosis for Families with Inherited Metabolic Disorders in the Czech Republic. Journal of Inherited Metabolic Disease. 2011;34:S273-S273.
  22. Hejtmankova M, Hlavova E, Putzova M, Eliasova I, Mika J, Brandejska M, et al. Preimplantation Genetic Diagnosis of Fabry Disease (gla Gene). Journal of Inherited Metabolic Disease. 2011;34:S188-S188.
  23. Putzova M, Pecnova L, Dvorakova L, Soldatova I, Goetz P, Stejskal D. OmniPlex-a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population. Prenat Diagn. 2008 Dec;28(13):1214-1220. doi:10.1002/pd.2151. PMID: 19012274.
  24. Putzova M, Soldatova I, Pecnova L, Dvorakova L, Jencikova N, Goetz P, et al. QF-PCR-based prenatal detection of common aneuploidies in the Czech population: five years of experience. Eur J Med Genet. 2008;51(3):209-218. doi:10.1016/j.ejmg.2008.02.003. PMID: 18378202.
  25. Brdicka R, Beránek M, Cimburová M, Dvorácková J, Dvoráková D, Hájková J, Haskovec C, Kebrdlová V, Karas M, Kratochvílová A, Losan F, Macek M Jr, Musil F, Putzová M, Rozmanová S, Riedlová P, Safrová M, Scheinost O, Stolba P, Trka J, Vanecek T, Vrtel R. [Frequency view on genome changes testing]. Cas Lek Cesk. 2006;145(2):98-103. PMID: 16521397.
  26. Daum O, Sima R, Mukensnabl P, Vanecek T, Brouckova M, Benes Z, et al. Pigmented solid-pseudopapillary neoplasm of the pancreas. Pathol Int. 2005 May;55(5):280-284. doi:10.1111/j.1440-1827.2005.01825.x. PMID: 15871726.
  27. Kazakov DV, Mikyskova I, Mukensnabl P, Brouckova M, Treska V, Hes O, et al. Reactive syringofibroadenomatous hyperplasia in peristomal skin with formation of hybrid epidermal-colonic mucosa glandular structures, intraepidermal areas of sebaceous differentiation, induction of hair follicles, and features of human papillomavirus infection - A diagnostic pitfall. Am J Dermatopathol. 2005 Apr;27(2):135-141. doi:10.1097/00000372-200504000-00010. PMID: 15798439.
  28. Machatkova M, Brouckova M, Matejckova M, Krebsova A, Sperling K, Vorsanova S, et al. QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe. J Histochem Cytochem. 2005 Mar;53(3):371-373. doi:10.1369/jhc.4B6510.2005. PMID: 15750023.
  29. Bauer P, Kraus J, Matoska V, Brouckova M, Zumrova A, Goetz P. Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7. J Neurol. 2004 Aug;251(8):1023-1024. doi:10.1007/s00415-004-0482-4. PMID: 15316811.
  30. Michal M, Vanecek T, Sima R, Mukensnabl P, Boudova L, Brouckova M, et al. Primary capillary hemangioblastoma of peripheral soft tissues. Am J Surg Pathol. 2004 Jul;28(7):962-966. doi:10.1097/00000478-200407000-00018. PMID: 15223969.
  31. Macek M, Vilímová S, Potuzníková P, Yurov Y, Vorsanova S, Diblík J, et al. [Medical genetics in reproductive medicine]. Cas Lek Cesk. 2002;141(1):28-34. PMID: 11899543.
  32. Macek M, Matejckova M, Brouckova M, Marek J, Simandlova M, Krutilkova V, et al. Prenatal diagnosis of partial trisomy 18 by quantitative fluorescent PCR (QFPCR). European Journal of Human Genetics. 2002 May;10:285-285.
  33. Kodedova I, Dolezel D, Brouckova M, Jirku M, Hypsa V, Lukes J, et al. On the phylogenetic positions of the Caryophyllidea, Pseudophyllidea and Proteocephalidea (Eucestoda) inferred from 18S rRNA. Int J Parasitol. 2000 Sep;30(10):1109-1113. doi:10.1016/S0020-7519(00)00090-4. PMID: 10996329.