Publications with the support of NCMG for the year 2023

1. Baird SJE, Hiadlovská Z, Daniszová K, et al (2023) A gene copy number arms race in action: X,Y-chromosome transmission distortion across a species barrier. Evolution (N Y) 77:1330–1340. https://doi.org/10.1093/evolut/qpad051
2. Ballonová L, Souček P, Slanina P, et al (2023) Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity. Front Genet 14:1–15. https://doi.org/10.3389/fgene.2023.1123914
3. Bleyer AJ, Kidd KO, Williams AH, et al (2023) Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease. Obstet Med 16:162–169. https://doi.org/10.1177/1753495X221133150
4. Bohosova J, Kozelkova K, Al Tukmachi D, et al (2023) Long non-coding RNAs enable precise diagnosis and prediction of early relapse after nephrectomy in patients with renal cell carcinoma. J Cancer Res Clin Oncol 149:7587–7600. https://doi.org/10.1007/s00432-023-04700-7
5. Bruel AL, Ganga AK, Nosková L, et al (2023) Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. Hum Mol Genet 32:2822–2831. https://doi.org/10.1093/hmg/ddad109
6. Cassani M, Fernandes S, Oliver-De La Cruz J, et al (2023) YAP Signaling Regulates the Cellular Uptake and Therapeutic Effect of Nanoparticles. Adv Sci 2302965:1–16. https://doi.org/10.1002/advs.202302965
7. Celiker C, Weissova K, Cerna KA, et al (2023) Light-Responsive MicroRNA Molecules in Human Retinal Organoids are Differentially Regulated by Distinct Wavelengths of Light. iScience 26:107237. https://doi.org/10.1016/j.isci.2023.107237
8. de Jesus AA, Chen G, Yang D, et al (2023) Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome. Nat Commun 14:. https://doi.org/10.1038/s41467-023-36941-y
9. Deissová T, Zapletalová M, Kunovský L, et al (2023) 16S rRNA gene primer choice impacts off-target amplification in human gastrointestinal tract biopsies and microbiome profiling. Sci Rep 13:1–10. https://doi.org/10.1038/s41598-023-39575-8
10. Denommé-Pichon AS, Bruel AL, Duffourd Y, et al (2023) A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med 25:. https://doi.org/10.1016/j.gim.2023.100018
11. Fajkus P, Adámik M, Nelson ADL, et al (2023) Telomerase RNA in Hymenoptera (Insecta) switched to plant/ciliate-like biogenesis. Nucleic Acids Res 51:420–433. https://doi.org/10.1093/nar/gkac1202
12. Fedorova V, Amruz Cerna K, Oppelt J, et al (2023) MicroRNA Profiling of Self-Renewing Human Neural Stem Cells Reveals Novel Sets of Differentially Expressed microRNAs During Neural Differentiation In Vitro. Stem Cell Rev Reports 1524–1539. https://doi.org/10.1007/s12015-023-10524-2
13. Fedorova V, Pospisilova V, Vanova T, et al (2023) Glioblastoma and cerebral organoids : development and analysis of an in vitro model for glioblastoma migration. 17:647–663. https://doi.org/10.1002/1878-0261.13389
14. Fulneček J, Klimentová E, Cairo A, et al (2023) The SAP domain of Ku facilitates its efficient loading onto DNA ends. Nucleic Acids Res 11706–11716. https://doi.org/10.1093/nar/gkad850
15. Hejret V, Varadarajan NM, Klimentova E, et al (2023) Analysis of chimeric reads characterises the diverse targetome of AGO2-mediated regulation. Sci Rep 13:https://doi.org/10.1038/s41598-023-49757-z
16. Hiatt SM, Trajkova S, Sebastiano MR, et al (2023) Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet 110:215–227. https://doi.org/10.1016/j.ajhg.2022.12.007
17. Ilík V, Kreisinger J, Modrý D, et al (2023) High diversity and sharing of strongylid nematodes in humans and great apes cohabiting an unprotected area in Cameroon. PLoS Negl Trop Dis 17:1–19. https://doi.org/10.1371/journal.pntd.0011499
18. Janacova L, Stenckova M, Lapcik P, et al (2023) Catechol-O-methyl transferase suppresses cell invasion and interplays with MET signaling in estrogen dependent breast cancer. Sci Rep 13:1–14. https://doi.org/10.1038/s41598-023-28078-1
19. Jorge S, Kidd K, Vylet’al P, et al (2023) Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD. Kidney Int Reports 8:1112–1116. https://doi.org/10.1016/j.ekir.2023.01.017
20. Kmochová T, Kidd KO, Orr A, et al (2023) Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis. Kidney Int. https://doi.org/https://doi.org/10.1016/j.kint.2023.11.021
21. Konecna E, Videnska P, Buresova L, et al (2023) Enrichment of human nasopharyngeal bacteriome with bacteria from dust after short-term exposure to indoor environment: a pilot study. BMC Microbiol 23:1–16. https://doi.org/10.1186/s12866-023-02951-5
22. Kral J, Jelinkova S, Zemankova P, et al (2023) Germline multigene panel testing of patients with endometrial cancer. Oncol Lett 25:1–11. https://doi.org/10.3892/ol.2023.13802
23. Kulkarni A, Jozefiaková J, Bhide K, et al (2023) Differential transcriptome response of blood brain barrier spheroids to neuroinvasive Neisseria and Borrelia. Front Cell Infect Microbiol 13:1–16. https://doi.org/10.3389/fcimb.2023.1326578
24. Lapcik P, Sulc P, Janacova L, et al (2023) Desmocollin-1 is associated with pro-metastatic phenotype of luminal A breast cancer cells and is modulated by parthenolide. Cell Mol Biol Lett 28:. https://doi.org/10.1186/s11658-023-00481-6
25. Mahrik L, Stefanovie B, Maresova A, et al (2023) The SAGA histone acetyltransferase module targets SMC5/6 to specific genes. Epigenetics and Chromatin 16:1–16. https://doi.org/10.1186/s13072-023-00480-z
26. Mancikova V, Pesova M, Pavlova S, et al (2023) Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage. Mol Oncol 17:82–97. https://doi.org/10.1002/1878-0261.13337
27. Navrkalova V, Plevova K, Radova L, et al (2023) Integrative NGS testing reveals clonal dynamics of adverse genomic defects contributing to a natural progression in treatment-naïve CLL patients. Br J Haematol 1–10. https://doi.org/10.1111/bjh.19191
28. Necpál J, Winkelmann J, Zech M, Jech R (2023) A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy. Park Relat Disord 111:. https://doi.org/10.1016/j.parkreldis.2023.105437
29. Neřoldová M, Ciara E, Slatinská J, et al (2023) Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. PLoS One 18:e0288907. https://doi.org/10.1371/journal.pone.0288907
30. Nosková L, Fukata Y, Stránecký V, et al (2023) ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder . Brain Commun 5:1–8. https://doi.org/10.1093/braincomms/fcad295
31. Nosková, E., Modrý, D., Svobodová, V., Baláž, V., Červená, B., Dumas, L., ... & Pafčo, B. (2023). GENETIC DIVERSITY OF STRONGYLOIDES INFECTING DOGS. THE IMPACT OF GLOBAL CHANGE, 40.
32. Pivovarcikova K, Pitra T, Alaghehbandan R, et al (2023) Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines. Virchows Arch 483:517–526. https://doi.org/10.1007/s00428-023-03626-2
33. Pivrncova E, Kotaskova I, Buresova L, et al (2023) THE EFFECT OF INTRAPARTUM ANTIBIOTIC PROPHYLAXIS ON NEONATAL GUT AND ORAL BACTERIOME. 65269705 (ppt)
34. Pócsi M, Fejes Z, Bene Z, et al (2023) Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination. J Cyst Fibros 22:1085–1092. https://doi.org/10.1016/j.jcf.2023.04.001
35. Redmer T, Raigel M, Sternberg C, Ziegler R (2023) JUN mediates senescence and immune cell recruitment to prevent prostate cancer progression (BioRxiv)
36. Rehulkova A, Chudacek J, Prokopova A, et al (2023) Clinical and prognostic significance of detecting CEA, EGFR, LunX, c-met and EpCAM mRNA-positive cells in the peripheral blood, tumor-draining blood and bone marrow of non-small cell lung cancer patients. Transl Lung Cancer Res 12:1034–1050. https://doi.org/10.21037/tlcr-22-801
37. Reiss Z, Rob F, Kolar M, et al (2023) Skin microbiota signature distinguishes IBD patients and reflects skin adverse events during anti-TNF therapy. Front Cell Infect Microbiol 12:1–15. https://doi.org/10.3389/fcimb.2022.1064537
38. Roskova I, Vecera M, Radova L, et al (2023) Small RNA Sequencing Identifies a Six-MicroRNA Signature Enabling Classification of Brain Metastases According to their Origin. Cancer Genomics and Proteomics 20:18–29. https://doi.org/10.21873/cgp.20361
39. Ruckova M, Tukmachi D Al Circulating MicroRNAs Do Not Provide a Diagnostic Benefit Over Tissue Biopsy in Patients With Brain Metastases. 1–23 (preprint)
40. Schmiedová L, Černá K, Li T, et al (2023) Bacterial communities along parrot digestive and respiratory tracts: the effects of sample type, species and time. Int Microbiol. https://doi.org/10.1007/s10123-023-00372-y
41. Schwarz M, Kanich O, Berka M, Havlovicová M, Drahanský M. Dermatoglyphic Patterns in Monozygotic Twins with Zimmermann-Laband Syndrome. Journal of Forensic Identification. 2023;73(1)
42. Silhavy J, Mlejnek P, Simakova M, et al (2023) Spontaneous nonsense mutation in Tuft1 (tuftelin 1) gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat. Physiol Genomics 65–73. https://doi.org/10.1152/physiolgenomics.00084.2023
43. Skopkova M, Stufkova H, Rambani V, et al (2023) ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet J Rare Dis 18:1–12. https://doi.org/10.1186/s13023-023-02689-3
44. Sterba M, Pokorna P, Faberova R, et al (2023) Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity. Sci Rep 13:1–9. https://doi.org/10.1038/s41598-023-37468-4
45. Těšický M, Schmiedová L, Krajzingrová T, et al. Nearly (?) sterile avian egg in a passerine bird. FEMS Microbiology Ecology. 2023:fiad164.
46. Vaculík O, Chalupová E, Grešová K, et al (2023) Transfer Learning Allows Accurate RBP Target Site Prediction with Limited Sample Sizes. Biology (Basel) 12:1276. https://doi.org/10.3390/biology12101276
47. Vanova T, Sedmik J, Raska J, et al (2023) Cerebral organoids derived from patients with Alzheimer’s disease with PSEN1/2 mutations have defective tissue patterning and altered development. Cell Rep 42:113310. https://doi.org/10.1016/j.celrep.2023.113310
48. Vecera L, Prasil P, Srovnal J, et al (2023) Morphine Analgesia, Cannabinoid Receptor 2, and Opioid Growth Factor Receptor Cancer Tissue Expression Improve Survival after Pancreatic Cancer Surgery. Cancers (Basel) 15:. https://doi.org/10.3390/cancers15164038
49. Vejmelkova K, Pokorna P, Noskova K, et al (2023) Tazemetostat in the therapy of pediatric INI1-negative malignant rhabdoid tumors. Sci Rep 13:1–5. https://doi.org/10.1038/s41598-023-48774-2
50. Vidlarova M, Rehulkova A, Stejskal P, et al (2023) Recent Advances in Methods for Circulating Tumor Cell Detection. Int J Mol Sci 24:. https://doi.org/10.3390/ijms24043902
51. Waterham HR, Koster J, Ebberink MS, et al (2023) Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene. Genet Med 25:. https://doi.org/10.1016/j.gim.2023.100944
52. Zídková J, Kramářová T, Kopčilová J, et al (2023) Genetic findings in Czech patients with limb girdle muscular dystrophy. Clin Genet 104:542–553. https://doi.org/10.1111/cge.14407
53. Zunova H, Stolfa M, Kunikova T, et al (2023) A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation. Am J Med Genet Part A. https://doi.org/10.1002/ajmg.a.63085

Theses with the support of NCMG for the year 2023

1. Král (2023) Identifikace dědičných faktorů ovlivňujících vznik karcinomu pankreatu a dalších solidních tumorů, disertation theses, Charles University, 1st Faculty of Medicine
2. Rada M (2023) Analýza vybraných orálních probiotik z kultur a z orálního prostředí – bachelor thesis, MU Brno
3. Těšický M (2023) Host-microbiota , pro-inflammatory immunity and physiological senescence in wild birds – disertation theses, Charles University, Faculty of Science
4. Zůnová M (2023) Analýza genomických variant u pacientů s neurovývojovými onemocněními se zaměřením na epilepsie – disertation theses, Charles University, 2nd Faculty of Medicine

Publications with the support of NCMG for the year 2022

1. Arpas T, Jelinkova H, Hrabovsky S, et al (2022) Very rare near‐haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR‐T therapy in 19‐year‐old male patient. Clin Case Reports 10:. https://doi.org/10.1002/ccr3.5545
2. Baloun J, Pekacova A, Wenchich L, et al (2022) Menopausal Transition: Prospective Study of Estrogen Status, Circulating MicroRNAs, and Biomarkers of Bone Metabolism. Front Endocrinol (Lausanne) 13:. https://doi.org/10.3389/fendo.2022.864299
3. Bhide K, Mochnáčová E, Tkáčová Z, et al (2022) Signaling events evoked by domain III of envelop glycoprotein of tick-borne encephalitis virus and West Nile virus in human brain microvascular endothelial cells. Sci Rep 12:. https://doi.org/10.1038/s41598-022-13043-1
4. Bleyer AJ, Wolf MT, Kidd KO, et al (2022) Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr Nephrol. doi: 10.1007/s00467-021-05118-4.
5. Bleyer AJ, Kidd KO, Williams AH, et al (2022) Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease. Obstetric Medicine. 0(0). doi:10.1177/1753495X221133150
6. Bohosova J, Kasik M, Kubickova A, et al (2022) LncRNA PVT1 is increased in renal cell carcinoma and affects viability and migration in vitro. J Clin Lab Anal 36:. https://doi.org/10.1002/jcla.24442
7. Boublikova L, Kramarzova KS, Zwyrtkova M, et al (2022) The clinical value of circulating free tumor DNA in testicular germ cell tumor patients. Urol Oncol Semin Orig Investig 40:412.e15-412.e24. https://doi.org/10.1016/j.urolonc.2022.04.021
8. Cediel ML, Stawarski M, Blanc X, et al (2022) GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy. Am J Hum Genet 109:1885–1893. https://doi.org/10.1016/j.ajhg.2022.08.010
9. Costa A, Franková V, Robert G, et al (2022) Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom. J Community Genet 13:313–327. https://doi.org/10.1007/s12687-022-00589-w
10. Dolina J, Kunovsky L, Kroupa R, et al (2022) Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? Biomed Pap 166:228–235. https://doi.org/10.5507/bp.2021.040
11. Elhassan EAE, Murray SL, Connaughton DM, et al (2022) The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. J Nephrol 35:1655–1665. https://doi.org/10.1007/s40620-021-01236-2
12. Ergir E, Oliver-De La Cruz J, Fernandes S, et al (2022) Generation and maturation of human iPSC-derived 3D organotypic cardiac microtissues in long-term culture. Sci Rep 12:. https://doi.org/10.1038/s41598-022-22225-w
13. Fajkus P, Adámik M, Nelson ADL, et al (2022) Telomerase RNA in Hymenoptera (Insecta) switched to plant/ciliate-like biogenesis. Nucleic Acids Res. https://doi.org/10.1093/nar/gkac1202
14. Finstrlová A, Mašlaňová I, Blasdel Reuter BG, et al (2022) Global Transcriptomic Analysis of Bacteriophage-Host Interactions between a Kayvirus Therapeutic Phage and Staphylococcus aureus. Microbiol Spectr 10:. https://doi.org/10.1128/spectrum.00123-22
15. Guizzo MG, Dolezelikova K, Neupane S, et al (2022) Characterization and manipulation of the bacterial community in the midgut of Ixodes ricinus. Parasites and Vectors 15:. https://doi.org/10.1186/s13071-022-05362-z
16. Hrbac T, Kopkova A, Siegl F, et al (2022) HLA-E and HLA-F Are Overexpressed in Glioblastoma and HLA-E Increased After Exposure to Ionizing Radiation. Cancer Genomics and Proteomics 19:151–162. https://doi.org/10.21873/cgp.20311
17. Jaroušek R, Mikulová A, Daďová P, et al (2022) Single-cell RNA sequencing analysis of T helper cell differentiation and heterogeneity. Biochim Biophys Acta - Mol Cell Res 1869:. https://doi.org/10.1016/j.bbamcr.2022.119321
18. Limberger T, Schlederer M, Trachtová K, et al (2022) KMT2C methyltransferase domain regulated INK4A expression suppresses prostate cancer metastasis. Mol Cancer 21:. https://doi.org/10.1186/s12943-022-01542-8
19. Macečková Z, Kubíčková A, De Sanctis JB, Hajdúch M (2022) Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems. Int. J. Mol. Sci. https://doi.org/10.3390/ijms23031886
20. Mancikova V, Pesova M, Pavlova S, et al (2022) Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage. Mol Oncol. https://doi.org/10.1002/1878-0261.13337
21. Martino F, Varadarajan NM, Perestrelo AR, et al (2022) The mechanical regulation of RNA binding protein hnRNPC in the failing heart
22. Mason B, Petrzelkova KJ, Kreisinger J, et al (2022) Gastrointestinal symbiont diversity in wild gorilla: A comparison of bacterial and strongylid communities across multiple localities. Mol Ecol 31:4127–4145. https://doi.org/10.1111/mec.16558
23. Olbertova H, Plevova K, Pavlova S, et al (2022) Evolution of TP53 abnormalities during CLL disease course is associated with telomere length changes. BMC Cancer 22:. https://doi.org/10.1186/s12885-022-09221-z
24. Olinger E, eline Schaeffer C, Kidd K, et al (2022) An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. https://doi.org/10.1073/pnas
25. Pekár S, Dušátková LP, Macháčková T, et al (2022) Gut-content analysis in four species, combined with comparative analysis of trophic traits, suggests an araneophagous habit for the entire family Palpimanidae (Araneae). Org Divers Evol 22:265–274. https://doi.org/10.1007/s13127-021-00525-9
26. Pokorna P, Giannoula ;, Klement L, et al (2022) Minimal Residual Disease-Guided Intermittent Dosing in Patients With Cancer: Successful Treatment of Chemoresistant Anaplastic Large Cell Lymphoma Using Intermittent Lorlatinib Dosing
27. Pomahacova R, Paterova P, Nykodymova E, et al (2022) Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature. Biomed Pap 166:105–111. https://doi.org/10.5507/bp.2021.051
28. Rob F, Schierova D, Stehlikova Z, et al (2022) Association between ustekinumab therapy and changes in specific anti-microbial response, serum biomarkers, and microbiota composition in patients with IBD: A pilot study. PLoS One 17:e0277576. https://doi.org/10.1371/journal.pone.0277576
29. Rybova J, Kuchar L, Sikora J, et al (2022) Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency. J Inherit Metab Dis 45:1175–1190. https://doi.org/10.1002/jimd.12552
30. Schmiedová L, Tomášek O, Pinkasová H, et al (2022) Variation in diet composition and its relation to gut microbiota in a passerine bird. Sci Rep 12:. https://doi.org/10.1038/s41598-022-07672-9
31. Schwarz M, Ryba L, Křepelová A, et al (2022) Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant. Am J Med Genet Part A 188:1083–1087. https://doi.org/10.1002/ajmg.a.62616
32. Sikora J, Kmochová T, Mušálková D, et al (2022) A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis. Kidney Int 101:349–359. https://doi.org/10.1016/j.kint.2021.09.007
33. Slavik H, Balik V, Kokas FZ, et al (2022) Transcriptomic Profiling Revealed Lnc-GOLGA6A-1 as a Novel Prognostic Biomarker of Meningioma Recurrence. Neurosurgery 91:360–369. https://doi.org/10.1227/neu.0000000000002026
34. Skalníková M, Staňo Kozubík K, Trizuljak J, et al (2022) A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome. Int J Mol Sci 23:. https://doi.org/10.3390/ijms23020885
35. Snopková K, Dufková K, Chamrád I, et al (2022) Pyocin-mediated antagonistic interactions in Pseudomonas spp. isolated in James Ross Island, Antarctica. Environ Microbiol 24:1294–1307. https://doi.org/10.1111/1462-2920.15809
36. Souche E, Beltran S, Brosens E, et al (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet 30:1017–1021. https://doi.org/10.1038/s41431-022-01113-x
37. Souckova O, Skopova V, Baresova V, et al (2022) Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds. Metabolites 12:. https://doi.org/10.3390/metabo12121210
38. Stenton SL, Tesarova M, Sheremet NL, et al (2022) DNAJC30 defect: A frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain 145:1624–1631. https://doi.org/10.1093/brain/awac052
39. Stolfa M, Kunikova T, Novotna D, et al (2022) CASE REPORT A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype – phenotype correlation. 870–877. https://doi.org/10.1002/ajmg.a.63085
40. Sporikova Z, Slavkovsky R, Tuckova L, et al (2021) IDH1/2 Mutations in Patients With Diffuse Gliomas: A Single Centre Retrospective Massively Parallel Sequencing Analysis. Appl Immunohistochem Mol Morphol. 2022 Mar 1;30(3):178-183 https://doi.org/10.1097/PAI.0000000000000997
41. Vozdova M, Kubickova S, Kopecka V, et al (2022) Effects of the air pollution dynamics on semen quality and sperm DNA methylation in men living in urban industrial agglomeration. Environ Mol Mutagen 63:76–83. https://doi.org/10.1002/em.22474

Publications with the support of NCMG for the year 2021

1. Brinkmann J, Lissewski C, Pinna V, et al (2021) The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. Eur J Hum Genet 29:524–527. https://doi.org/10.1038/s41431-020-00743-3
2. Zaliova M, Winkowska L, Stuchly J, et al (2021) A novel class of ZNF384 aberrations in acute leukemia. Blood Adv 5:4393–4397. https://doi.org/10.1182/bloodadvances.2021005318
3. Franková V, Driscoll RO, Jansen ME, et al (2021) Regulatory landscape of providing information on newborn screening to parents across Europe. Eur J Hum Genet 29:. https://doi.org/10.1038/s41431-020-00716-6
4. Buglioni A, Hasadsri L, Nasr SH, et al (2021) Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement. Kidney Int Reports 4:2514–2518. https://doi.org/10.1016/j.ekir.2021.05.042
5. Capkova Z, Capkova P, Srovnal J, et al (2021) Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants. Mol Genet Genomic Med 9:. https://doi.org/10.1002/mgg3.1592
6. Dudakova L, Stranecky V, Piherova L, et al (2021) Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles. Genes (Basel) 12:. https://doi.org/10.3390/genes12050677
7. Lobello C, Tichy B, Bystry V, et al (2021) STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma. Leukemia 35:. https://doi.org/10.1038/s41375-020-01093-1
8. Sikora J, Kmochová T, Mušálková D, et al (2021) A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis. Kidney Int. https://doi.org/10.1016/j.kint.2021.09.007
9. Klempt P, Brzoň O, Kašný M, et al (2021) Distribution of SARS-CoV-2 Lineages in the Czech Republic, Analysis of Data from the First Year of the Pandemic. Microorganisms 9:. https://doi.org/10.3390/microorganisms9081671
10. Pekár S, Dušátková LP, Macháčková T, et al (2021) Gut-content analysis in four species, combined with comparative analysis of trophic traits, suggests an araneophagous habit for the entire family Palpimanidae (Araneae). Org Divers Evol. https://doi.org/10.1007/s13127-021-00525-9
11. Tidu F, De Zuani M, Jose SS, et al (2021) NFAT signaling in human mesenchymal stromal cells affects extracellular matrix remodeling and antifungal immune responses. iScience 24:. https://doi.org/10.1016/j.isci.2021.102683
12. Senovska A, Drozdova E, Vaculik O, et al (2021) Cost-effective straightforward method for captured whole mitogenome sequencing of ancient DNA. Forensic Sci Int 319:110638. https://doi.org/10.1016/j.forsciint.2020.110638
13. Zaliova M, Potuckova E, Lukes J, et al (2021) Frequency and prognostic impact of ZEB2 H1038 and Q1072 mutations in childhood B-other acute lymphoblastic leukemia. Haematologica 106:886–890. https://doi.org/10.3324/haematol.2020.249094
14. Čížková D, Ďureje Ľ, Piálek J, Kreisinger J (2021) Experimental validation of small mammal gut microbiota sampling from faeces and from the caecum after death. Heredity (Edinb) 127:141–150. https://doi.org/10.1038/s41437-021-00445-6
15. Tkáčová Z, Bhide K, Mochnáčová E, et al (2021) Comprehensive Mapping of the Cell Response to Borrelia bavariensis in the Brain Microvascular Endothelial Cells in vitro Using RNA-Seq. Front Microbiol 12:1–13. https://doi.org/10.3389/fmicb.2021.760627
16. Navrkalova V, Plevova K, Hynst J, et al (2021) LYmphoid NeXt-Generation Sequencing (LYNX) Panel: A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies. J Mol Diagnostics 23:959–974. https://doi.org/10.1016/j.jmoldx.2021.05.007
17. Bencurova P, Baloun J, Hynst J, et al (2021) Dynamic miRNA changes during the process of epileptogenesis in an infantile and adult-onset model. Sci Rep 11:1–14. https://doi.org/10.1038/s41598-021-89084-9
18. Snopková K, Dufková K, Chamrád I, et al (2021) Pyocin‐mediated antagonistic interactions in Pseudomonas spp. isolated in James Ross Island, Antarctica. Environ Microbiol. https://doi.org/10.1111/1462-2920.15809
19. Hynst J, Navrkalova V, Pal K, Pospisilova S (2021) Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application. PeerJ 9:e10897. https://doi.org/10.7717/peerj.10897
20. KISS D, MACHACKOVA T, SOUCKOVA K, et al (2021) An independent validation study of candidate micrornas as predictive biomarkers for bevacizumab-based therapy in patients with metastatic colorectal cancer. In Vivo (Brooklyn) 35:2809–2814. https://doi.org/10.21873/INVIVO.12567
21. Jiménez-Munguía I, Tomečková Z, Mochnáčová E, et al (2021) Transcriptomic analysis of human brain microvascular endothelial cells exposed to laminin binding protein (adhesion lipoprotein) and Streptococcus pneumoniae. Sci Rep 11:1–15. https://doi.org/10.1038/s41598-021-87021-4
22. Sedlar K, Vasylkivska M, Musilova J, et al (2021) Phenotypic and genomic analysis of isopropanol and 1,3-propanediol producer Clostridium diolis DSM 15410. Genomics 113:1109–1119. https://doi.org/10.1016/j.ygeno.2020.11.007
23. Srovnal J, Vidlarova M, Berta E, et al (2021) Abstract 665: Cannabinoid receptor 2 tumor tissue gene expression positively affects lung cancer survival following radical surgery. In: Clinical Research (Excluding Clinical Trials). American Association for Cancer Research, pp 665–665
24. Malcikova J, Pavlova S, Kunt Vonkova B, et al (2021) Low-burden TP53 mutations in CLL: Clinical impact and clonal evolution within the context of different treatment options. Blood. https://doi.org/10.1182/blood.2020009530
25. Schierova D, Roubalova R, Kolar M, et al (2021) Fecal Microbiome Changes and Specific Anti-Bacterial Response in Patients with IBD during Anti-TNF Therapy. Cells 10:3188. https://doi.org/10.3390/cells10113188
26. Perestrelo AR, Hejret V, Varadarajan NM, et al (2021) The mechanical regulation of RNA binding protein hnRNPC in the failing heart hnRNPC is a mechanosensitive component of RNA homeostasis apparatus in heart failure . Giancarlo Forte , PhD Center for Translational Medicine ( CTM ) International Clinical Rese. BioarxivRxiv 1–44. https://doi.org/10.1101/2021.08.27.457906
27. Sharma S, Pavlasova GM, Seda V, et al (2021) miR-29 modulates CD40 signaling in chronic lymphocytic leukemia by targeting TRAF4: an axis affected by BCR inhibitors. Blood 137:2481–2494. https://doi.org/10.1182/blood.2020005627
28. Kripnerová M, Parmar HS, Šána J, et al (2021) Complex interplay of genes underlies invasiveness in fibrosarcoma progression model. J Clin Med 10:2297. https://doi.org/10.3390/jcm10112297
29. Xiao W, Ren L, Chen Z, et al (2021) Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing. Nat Biotechnol 39:1141–1150. https://doi.org/10.1038/s41587-021-00994-5
30. Burska D, Stiburek L, Krizova J, et al (2021) Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control. Biochim Biophys Acta - Mol Basis Dis 1867:166147. https://doi.org/10.1016/j.bbadis.2021.166147
31. Sottas C, Schmiedová L, Kreisinger J, et al (2021) Gut microbiota in two recently diverged passerine species: evaluating the effects of species identity, habitat use and geographic distance. BMC Ecol Evol 21:1–14. https://doi.org/10.1186/s12862-021-01773-1
32. Fajkus P, Kilar A, Nelson ADL, et al (2021) Evolution of plant telomerase RNAs: Farther to the past, deeper to the roots. Nucleic Acids Res 49:7680–7694. https://doi.org/10.1093/nar/gkab545
33. Bleyer AJ, Wolf MT, Kidd KO, et al (2021) Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr. Nephrol.
34. Bene Z, Fejes Z, Szanto TG, et al (2021) Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells. Front Pharmacol 12:1–16. https://doi.org/10.3389/fphar.2021.592184
35. Yiallouros PK, Matthaiou A, Anagnostopoulou P, et al (2021) Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry. Orphanet J Rare Dis 16:1–21. https://doi.org/10.1186/s13023-021-02049-z
36. Oláhová M, Peter B, Szilagyi Z, et al (2021) POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12:1–13. https://doi.org/10.1038/s41467-021-21279-0
37. Fišarová L, Botka T, Du X, et al (2021) Staphylococcus epidermidis Phages Transduce Antimicrobial Resistance Plasmids and Mobilize Chromosomal Islands. mSphere 6:1–19. https://doi.org/10.1128/mSphere.00223-21
38. Bartos M, Siegl F, Kopkova A, et al (2021) Small RNA Sequencing Identifies PIWI-Interacting RNAs Deregulated in Glioblastoma—piR-9491 and piR-12488 Reduce Tumor Cell Colonies In Vitro. Front Oncol 11:1–11. https://doi.org/10.3389/fonc.2021.707017
39. Lahrouchi N, Postma A V., Salazar CM, et al (2021) Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy. J Clin Invest 131:1–12. https://doi.org/10.1172/JCI142148
40. Olinger E, Schaeffer C, Kidd K, et al (2021) An intermediate effect size variant in UMOD confers risk for chronic kidney disease. medRxiv 1–28. https://doi.org/https://doi.org/10.1101/2021.09.27.21263789
41. Dyková I, Žák J, Reichard M, et al (2021) Histopathology of laboratory-reared Nothobranchius fishes: Mycobacterial infections versus neoplastic lesions. J Fish Dis 44:1179–1190. https://doi.org/10.1111/jfd.13378
42. Jeanne M, Demory H, Moutal A, et al (2021) Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet 108:951–961. https://doi.org/10.1016/j.ajhg.2021.04.004
43. Liang HC, Costanza M, Prutsch N, et al (2021) Super-enhancer-based identification of a BATF3/IL-2R−module reveals vulnerabilities in anaplastic large cell lymphoma. Nat. Commun. 12
44. Sági JC, Gézsi A, Egyed B, et al (2021) Pharmacogenetics of the central nervous system—toxicity and relapse affecting the cns in pediatric acute lymphoblastic leukemia. Cancers (Basel) 13:. https://doi.org/10.3390/cancers13102333
45. Chowdhury F, Wang L, Al-Raqad M, et al (2021) Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med 23:1234–1245. https://doi.org/10.1038/s41436-021-01129-6
46. Parimuchová A, Dušátková LP, Kováč Ľ, et al (2021) The food web in a subterranean ecosystem is driven by intraguild predation. Sci Rep 11:1–11. https://doi.org/10.1038/s41598-021-84521-1
47. Vylet’Al P, Kidd K, Ainsworth HC, et al (2021) Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations. Am J Nephrol 52:378–387. https://doi.org/10.1159/000515810
48. Kalita O, Sporikova Z, Hajduch M, et al (2021) The influence of gene aberrations on survival in resected idh wildtype glioblastoma patients: A single-institution study. Curr Oncol 28:1280–1293. https://doi.org/10.3390/curroncol28020122

Publications with the support of NCMG for the year 2020

1. Skalicka P, Porter LF, Brejchova K, et al (2020) Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. Biomed Pap. Biomed Pap 164:183–188. doi: 10.5507/bp.2019.017
2. Majer F, Kousal B, Dusek P, et al (2020) Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Am J Med Genet Part A 182:219–223. doi: 10.1002/ajmg.a.61416
3. Kubánek M, Schimerová T, Piherová L, et al (2020) Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction. J Clin Med 9:937. doi: 10.3390/jcm9040937
4. Larose H, Prokoph N, Matthews JD, et al (2020) Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target. Haematologica 105:haematol.2019.238766. doi: 10.3324/haematol.2019.238766
5. Jedličková I, Cadieux-Dion M, Přistoupilová A, et al (2020) Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. Eur J Hum Genet 87:579–84. doi: 10.1038/s41431-019-0567-2
6. Kozlova V, Ledererova A, Ladungova A, et al (2020) CD20 is dispensable for B-cell receptor signaling but is required for proper actin polymerization, adhesion and migration of malignant B cells. PLoS One 15:1–20. doi: 10.1371/journal.pone.0229170
7. Vrbovská V, Sedláček I, Zeman M, et al (2020) Characterization of staphylococcus intermedius group isolates associated with animals from antarctica and emended description of staphylococcus delphini. Microorganisms 8:1–18. doi: 10.3390/microorganisms8020204
8. Bene Z, Fejes Z, Macek M, et al (2020) Laboratory biomarkers for lung disease severity and progression in cystic fibrosis. Clin Chim Acta. doi: 10.1016/j.cca.2020.05.015
9. Cormican S, Kennedy C, Connaughton DM, et al (2020) Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease. Clin Transplant 34:1–6. doi: 10.1111/ctr.13783
10. Vozdova M, Kubickova S, Pal K, et al (2020) Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing. Vet Comp Oncol 1–10. doi: 10.1111/vco.12572
11. Sottas C, Reif J, Kreisinger J, et al (2020) Tracing the early steps of competition-driven eco-morphological divergence in two sister species of passerines. Evol. Ecol.
12. Mazurova S, Tesarova M, Zeman J, et al (2020) Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency. J Dermatol 1–6. doi: 10.1111/1346-8138.15317
13. Leeksma AC, Baliakas P, Moysiadis T, et al (2020) Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study. Haematologica haematol.2019.239947. doi: 10.3324/haematol.2019.239947
14. Olinger E, Hofmann P, Kidd K, et al (2020) Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney Int. doi: 10.1016/j.kint.2020.04.038
15. Lhotova K, Stolarova L, Zemankova P, et al (2020) Multigene panel germline testing of 1333 Czech patients with ovarian cancer. Cancers (Basel) 12:3–16. doi: 10.3390/cancers12040956
16. Peska V, Mand T, Vitales D, et al (2020) Human-like telomeres in Zostera marina reveal a mode of transition from the plant to the human telomeric sequences. bioRxiv. doi: doi.org/10.1101/2020.03.11.987156
17. Slavik H, Balik V, Vrbkova J, et al (2020) Identification of Meningioma Patients at High Risk ofTumor Recurrence Using MicroRNA Profiling. Neurosurgery 0:1–9. doi: 10.1093/neuros/nyaa009
18. Sutton L-A, Ljungström V, et al (2020) Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study. Haematologica 105:haematol.2019.234716. doi: 10.3324/haematol.2019.234716
19. Tkáčiková Ľ, Mochnáčová E, Tyagi P, et al (2020) Comprehensive mapping of the cell response to E. coli infection in porcine intestinal epithelial cells pretreated with exopolysaccharide derived from Lactobacillus reuteri. Vet Res 51:1–13. doi: 10.1186/s13567-020-00773-1
20. Snopková K, Čejková D, Dufková K, et al (2020) Genome sequences of two Antarctic strains of Pseudomonas prosekii: insights into adaptation to extreme conditions. Arch Microbiol 202:447–454. doi: 10.1007/s00203-019-01755-4Arch Microbiol. doi: 10.1007/s00203-019-01755-4
21. Bleyer AJ, Kidd K, Robins V, et al (2020) Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases. Genet Med 22:142–149. doi: 10.1038/s41436-019-0617-8Genet Med 0:1–8. doi: 10.1038/s41436-019-0617-8
22. Lukes J, Danek P, Alejo-Valle O, et al (2020) Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation. Leukemia. doi: 10.1038/s41375-020-0769-1
23. Laidou S, Alanis-Lobato G, Pribyl J, et al (2020) Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery. Redox Biol 32:101458. doi: 10.1016/j.redox.2020.101458
24. Dudakova L, Skalicka P, Ulmanová O, et al (2020) Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. J Ophthalmol 2020:1–9. doi: 10.1155/2020/6807809
25. Jedličková I, Přistoupilová A, Nosková L, et al (2020) Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Mol Genet genomic Med e1238. doi: 10.1002/mgg3.1238
26. Geryk J, Krsička D, Vlčková M, et al (2020) The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis. Metabolites 10:. doi: 10.3390/metabo10050184
27. Schizophrenia Working Group of the Psychiatric Genomics Consortium., Ripke S, Walters JT, O’Donovan MC (2020) Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. medRxiv 2020.09.12.20192922
28. Pěnčík O, Jiráčková K, Mašlaňová I, et al (2020) Spatial structure of permafrost and active layer from the James Ross Island , Antarctica : Geological and Microbiological Insights. CZECH POLAR REPORTS 10:127–128
29. Jedlickova I, Pristoupilova A, Hulkova H, et al (2020) NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease. J Neuropathol Exp Neurol 79:1065–1071. https://doi.org/10.1093/jnen/nlaa070
30. Stolarova L, Jelinkova S, Storchova R, et al (2020) Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 8:404. https://doi.org/10.3390/biomedicines8100404
31. Živná M, Kidd K, Zaidan M, et al (2020) An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes. Kidney Int. https://doi.org/10.1016/j.kint.2020.06.041
32. Schneeberger PE, Kortüm F, Korenke GC, et al (2020) Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain 143:2437–2453. https://doi.org/10.1093/brain/awaa204
33. Franková V, Driscoll RO, Jansen ME, et al (2020) Regulatory landscape of providing information on newborn screening to parents across Europe. Eur J Hum Genet. https://doi.org/10.1038/s41431-020-00716-6
34. Brinkmann J, Lissewski C, Pinna V, et al (2020) The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. Eur J Hum Genet 3–6. https://doi.org/10.1038/s41431-020-00743-3

Publications with the support of NCMG for the year 2019

1. Hernández-Sánchez M, Kotaskova J, Rodríguez AE, et al (2019) CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase. Leukemia 33:518–558. doi: 10.1038/s41375-018-0255-1
2. Cormican S, Connaughton DM, Kennedy C, et al (2019) Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. Ren Fail 41:832–841. doi: 10.1080/0886022x.2019.1655452
3. Bereshchenko O, Lo Re O, Nikulenkov F, et al (2019) Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome. Clin Epigenetics 11:1–14. doi: 10.1186/s13148-019-0724-z
4. Balik V, Takizawa K (2019) Safe and bloodless exposure of the third segment of the vertebral artery: a step-by-step overview based on over 50 personal cases. Neurosurg Rev. doi: 10.1007/s10143-019-01158-5
5. Fajkus P, Peška V, Závodník M, et al (2019) Telomerase RNAs in land plants. Nucleic Acids Res 1–15. doi: 10.1093/nar/gkz695
6. Brejchova K, Dudakova L, Skalicka P, et al (2019) IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. Investig Opthalmology Vis Sci 60:3084. doi: 10.1167/iovs.19-26930
7. Petrova G, Yaneva N, Hrbková J, et al (2019) Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients. Mol. Genet. Genomic Med. 7
8. Souček P, Réblová K, Kramárek M, et al (2019) High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing. RNA Biol 16:1364–1376. doi: 10.1080/15476286.2019.1630796
9. Kostovcikova K, Coufal S, Galanova N, et al (2019) Diet rich in animal protein promotes pro-inflammatory macrophage response and exacerbates colitis in mice. Front Immunol 10:1–14. doi: 10.3389/fimmu.2019.00919
10. Oliver-De La Cruz J, Nardone G, Vrbsky J, et al (2019) Substrate mechanics controls adipogenesis through YAP phosphorylation by dictating cell spreading. Biomaterials 205:64–80. doi: 10.1016/j.biomaterials.2019.03.009
11. Jelinkova S, Fojtik P, Kohutova A, et al (2019) Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress. Cells 8:53. doi: 10.3390/cells8010053
12. Mareckova A, Malcikova J, Tom N, et al (2018) ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients. Leuk Lymphoma 60:1420–1428. doi: 10.1080/10428194.2018.1542144
13. Králová S, Busse HJ, Švec P, et al (2019) Flavobacterium circumlabens sp. nov. and Flavobacterium cupreum sp. nov., two psychrotrophic species isolated from Antarctic environmental samples. Syst Appl Microbiol 42:291–301. doi: 10.1016/j.syapm.2018.12.005
14. Kleiblová P, Stolařová L, Křížová K, et al (2019) Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition – Mutation Types and their Biological and Clinical Relevance. Klin Onkol 32:36–50. doi: 10.14735/amko2019s36
15. Bleyer AJ, Kmoch S, Greka A (2019) Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med 380:2080. doi: 10.1056/NEJMc1903250
16. Wayhelova M, Oppelt J, Smetana J, et al (2019) Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.Mol Med Rep 20:505–512. doi: 10.3892/mmr.2019.10303
17. Doubková M, Staňo Kozubík K, Radová L, et al (2019) A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. Hum Genome Var 6:12. doi: 10.1038/s41439-019-0044-z
18. Zaliova M, Stuchly J, Winkowska L, et al (2019) Genomic landscape of pediatric B-other acute lymphoblastic leukemia in a consecutive European cohort. Haematologica 104:1396–1406. doi: 10.3324/haematol.2018.204974
19. Nagy B, Bene Z, Fejes Z, et al (2019) Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV 1 ) in cystic fibrosis patients receiving ivacaftor treatment. J Cyst Fibros 18:271–277. doi: 10.1016/j.jcf.2018.08.013
20. Zaliova M, Potuckova E, Hovorkova L, et al (2019) ERG deletions in childhood acute lymphoblastic leukemia with DUX4 rearrangements are mostly polyclonal, prognostically relevant and their detection rate strongly depends on method’s sensitivity. Haematologica 104:1407–1416. doi: 10.3324/haematol.2018.204487
21. Wiatrek DM, Candela ME, Sedmík J, et al (2019) Activation of innate immunity by mitochondrial dsRNA in mouse cells lacking p53 protein. Rna 25:713–726. doi: 10.1261/rna.069625.118
22. Kleiblova P, Stolarova L, Krizova K, et al (2019) Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer. Int J Cancer 145:1782–1797. doi: 10.1002/ijc.32385
23. Holub D, Flodrova P, Pika T, et al (2019) Mass Spectrometry Amyloid Typing Is Reproducible across Multiple Organ Sites. Biomed Res Int 2019:1–9. doi: 10.1155/2019/3689091
24. Dudakova L, Evans CJ, Pontikos N, et al (2019) The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. Exp Eye Res 182:160–166. doi: 10.1016/j.exer.2019.03.002
25. Vevera J, Zarrei M, Hartmannová H, et al (2019) Rare copy number variation in extremely impulsively violent males.Genes, Brain Behav 18:e12536. doi: 10.1111/gbb.12536
26. Pavlova S, Smardova J, Tom N, Trbusek M (2019) Detection and Functional Analysis of TP53 Mutations in CLL. In: Methods in molecular biology (Clifton, N.J.). pp 63–81
27. Yu FP, Sajdak BS, Sikora J, et al (2019) Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. Am J Pathol 189:320–338. doi: 10.1016/j.ajpath.2018.10.018
28. Yu FPS, Molino S, Sikora J, et al (2019) Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. Lab Investig 99:1572–1592. doi: 10.1038/s41374-019-0271-4
29. Devuyst O, Olinger E, Weber S, et al (2019) Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Prim 5:60. doi: 10.1038/s41572-019-0109-9
30. Nunvar J, Hogan AM, Buroni S, et al (2019) The Effect of 2-Thiocyanatopyridine Derivative 11026103 on Burkholderia Cenocepacia: Resistance Mechanisms and Systemic Impact. Antibiotics 8:159. doi: 10.3390/antibiotics8040159
31. Machálková M, Pavlatovská B, Michálek J, et al (2019) Drug Penetration Analysis in 3D Cell Cultures Using Fiducial-Based Semiautomatic Coregistration of MALDI MSI and Immunofluorescence Images. Anal Chem 91:13475–13484. doi: 10.1021/acs.analchem.9b02462
32. Pelet A, Skopova V, Steuerwald U, et al (2019) PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. Hum Mol Genet 1–30. doi: 10.1093/hmg/ddz237
33. Sedlar K, Kolek J, Gruber M, et al (2019) A transcriptional response of Clostridium beijerinckii NRRL B-598 to a butanol shock. Biotechnol Biofuels 12:243. doi: 10.1186/s13068-019-1584-7
34. Káňová E, Tkáčová Z, Bhide K, et al (2019) Transcriptome analysis of human brain microvascular endothelial cells response to Neisseria meningitidis and its antigen MafA using RNA-seq. Sci Rep 9:18763. doi: 10.1038/s41598-019-55409-y
35. Capkova Z, Capkova P, Srovnal J, et al (2019) Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.PeerJ 2019:e7979. doi: 10.7717/peerj.7979
36. Stehlikova Z, Tlaskal V, Galanova N, et al (2019) Oral Microbiota Composition and Antimicrobial Antibody Response in Patients with Recurrent Aphthous Stomatitis. Microorganisms 7:636. doi: 10.3390/microorganisms7120636
37. Vasylkivska M, Jureckova K, Branska B, et al (2019) Transcriptional analysis of amino acid, metal ion, vitamin and carbohydrate uptake in butanol-producing Clostridium beijerinckii NRRL B-598. PLoS One 14:e0224560. doi: 10.1371/journal.pone.0224560
38. Bleyer AJ, Kidd K, Johnson E, et al (2019) Quality of life in patients with autosomal dominant tubulointerstitial kidney disease. Clin Nephrol 92:302–311. doi: 10.5414/CN109842

Publications with the support of NCMG for the year 2018

1. Gstrein T, Edwards A, Přistoupilová A, et al (2018) Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nat Neurosci 1. doi: 10.1038/s41593-017-0053-5
2. Dudakova L, Vercruyssen JHJ, Balikova I, et al (2018) Analysis of KERA in four families with cornea plana identifies two novel mutations. Acta Ophthalmol 96:e87–e91. doi: 10.1111/aos.13484
3. Dudakova L, Cheong S-S, Merjava SR, et al (2018) Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. Stem Cell Rev Reports 14:148–151. doi: 10.1007/s12015-017-9780-y
4. Paderova J, Drabova J, Holubova A, et al (2018) Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. Eur J Med Genet. doi: 10.1016/j.ejmg.2018.01.00
5. van den Ameele J, Jedlickova I, Pristoupilova A, et al (2018) Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. Neurology doi: 10.1212/WNL.0000000000004999
6. Brazdilova K, Plevova K, Skuhrova Francova H, et al (2018) Multiple productive IGH rearrangements denote oligoclonality even in immunophenotypically monoclonal CLL. Leukemia 32:234–236. doi: 10.1038/leu.2017.274
7. Kremlikova Pourova R, Paderova J, Copikova J, et al (2018) SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. J Am Assoc Pediatr Ophthalmol Strabismus 1–3. doi: 10.1016/j.jaapos.2017.12.009
8. Liskova P, Dudakova L, Evans CJ, et al (2018) Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. Am J Hum Genet 102:447–459. doi: 10.1016/j.ajhg.2018.02.002
9. Zikánová M, Wahezi D, Hay A, et al (2018) Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. Rheumatology 1–6. doi: 10.1093/rheumatology/key041
10. Slamova Z, Nazaryan-Petersen L, Mehrjouy MM, et al (2018) Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly. Hum Mutat. doi: 10.1002/humu.23408
11. Springer D, Loucky J, Tesner P, et al (2018) Importance of the integrated test in the Down’s syndrome screening algorithm. J Med Screen 096914131775253. doi: 10.1177/0969141317752533
12. Ivády G, Madar L, Dzsudzsák E, et al (2018) Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system. BMC Genomics 19:1–8. doi: 10.1186/s12864-018-4544-x
13. Pafčo B, Čížková D, Kreisinger J, et al (2018) Metabarcoding analysis of strongylid nematode diversity in two sympatric primate species. Sci Rep 8:5933. doi: 10.1038/s41598-018-24126-3
14. Malcikova J, Tausch E, Rossi D, et al (2018) ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation. Leukemia 1–11. doi: 10.1038/s41375-017-0007-7
15. Vlčková K, Kreisinger J, Pafčo B, et al (2018) Diversity of Entamoeba spp. in African great apes and humans: an insight from Illumina MiSeq high-throughput sequencing. Int J Parasitol. doi: 10.1016/j.ijpara.2017.11.008
16. Sedlar K, Koscova P, Vasylkivska M, et al (2018) Transcription profiling of butanol producer Clostridium beijerinckii NRRL B-598 using RNA-Seq. BMC Genomics 19:415. doi: 10.1186/s12864-018-4805-8
17. Kutilova I, Janecko N, Cejkova D, et al (2018) Characterization of blaKPC-3-positive plasmids from an Enterobacter aerogenes isolated from a corvid in Canada. J Antimicrob Chemother. doi: 10.1093/jac/dky199
18. Čížková D, Baird SJE, Těšíková J, et al (2018) Host subspecific viral strains in European house mice: Murine cytomegalovirus in the Eastern ( Mus musculus musculus ) and Western house mouse ( Mus musculus domesticus ). Virology 521:92–98. doi: 10.1016/j.virol.2018.05.023
19. Tom N, Tom O, Malcikova J, et al (2018) ToTem: a tool for variant calling pipeline optimization. BMC Bioinformatics 19:243. doi: 10.1186/s12859-018-2227-x
20. Evans CJ, Dudakova L, Skalicka P, et al (2018) Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. BMC Ophthalmol 18:250. doi: 10.1186/s12886-018-0918-8
21. Majer F, Piherova L, Reboun M, et al (2018) LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? Am J Med Genet Part A. doi: 10.1002/ajmg.a.40430
22. Agrawal K, Das V, Táborská N, et al (2018) Differential Regulation of Methylation-Regulating Enzymes by Senescent Stromal Cells Drives Colorectal Cancer Cell Response to DNA-Demethylating Epi-Drugs. Stem Cells Int 2018:1–11. doi: 10.1155/2018/6013728
23. Farrell P, Férec C, Macek M, et al (2018) Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis. Eur J Hum Genet 1. doi: 10.1038/s41431-018-0234-z
24. Hiatt SM, Neu MB, Ramaker RC, et al (2018) De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLOS Genet 14:e1007671. doi: 10.1371/journal.pgen.1007671
25. Živná M, Kidd K, Přistoupilová A, et al (2018) Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol 29:2418–2431. doi: 10.1681/ASN.2018020180
26. Trizuljak J, Kozubík KS, Radová L, et al (2018) A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. Platelets 1–7. doi: 10.1080/09537104.2018.1529300
27. Gast C, Marinaki A, Arenas-Hernandez M, et al (2018) Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol 19:301. doi: 10.1186/s12882-018-1107-y
28. Čaplovičová M, Moslerová V, Dupej J, et al (2018) Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt. Am J Med Genet Part A. doi: 10.1002/ajmg.a.40659
29. Soukupova J, Zemankova P, Lhotova K, et al (2018) Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes. PLoS One 13:e0195761. doi: 10.1371/journal.pone.0195761
30. Puchmajerová A, Tornikidis J, Mrňa L, et al (2018) Hereditární formy karcinomu prsu : genetická etiologie a současné možnosti prevence a chirurgické léčby. Čas Lék čes 157:90–95
31. Hlavac V, Kovacova M, Elsnerova K, et al (2018) Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients. Cancers (Basel) 10:511. doi: 10.3390/cancers10120511
32. Kmoch S, Zeman J (2018) Moderní metody v diagnostice a výzkumu genetických příčin vzácných onemocnění. Cas Lek Cesk 157:133–136
33. Harper JC, Aittomäki K, Borry P, et al (2018) Recent developments in genetics and medically-assisted reproduction: from research to clinical applications. Hum Reprod Open. doi: 10.1093/hropen/hox015
34. Yu FP, Islam D, Sikora J, et al (2018) Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. Am J Physiol Cell Mol Physiol ajplung.00223.2. doi: 10.1152/ajplung.00223.2017

Publications with the support of NCMG for the year 2017

1. Pal K, Bystry V, Reigl T, et al (2017) GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data. Bioinformatics 33:3802–3804. doi: 10.1093/bioinformatics/btx423
2. Kim Y, Park S-J, Manson SR, et al (2017) Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease. JCI insight. doi: 10.1172/jci.insight.92896
3. Kristoffersson U, Macek M (2017) From Mendel to Medical Genetics. Eur J Hum Genet 25:S53–S58. doi: 10.1038/ejhg.2017.157
4. Hojny J, Zemankova P, Lhota F, et al (2017) Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model. Gene 637:41–49. doi: 10.1016/j.gene.2017.09.025
5. Bencurova P, Baloun J, Musilova K, et al (2017) MicroRNA and mesial temporal lobe epilepsy with hippocampal sclerosis: Whole miRNome profiling of human hippocampus. Epilepsia 58:1782–1793. doi: 10.1111/epi.13870
6. Dudakova L, Stranecky V, Ulmanova O, et al (2017) Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts. Mol Biol Rep. doi: 10.1007/s11033-017-4121-4
7. Růžička K, Zhang M, Campilho A, et al (2017) Identification of factors required for m(6) A mRNA methylation in Arabidopsis reveals a role for the conserved E3 ubiquitin ligase HAKAI. New Phytol 215:157–172. doi: 10.1111/nph.14586
8. Krsička D, Geryk J, Vlčková M, et al (2017) Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach. Autism Res. doi: 10.1002/aur.1780
9. Liskova P, Dudakova L, Krepelova A, et al (2017) Replication of SNP associations with keratoconus in a Czech cohort. PLoS One 12:e0172365. doi: 10.1371/journal.pone.0172365
10. Mazurova S, Magner M, Kucerova-Vidrova V, et al (2017) Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. Cardiol Young 27:936–944. doi: 10.1017/S1047951116001876

Publications with the support of NCMG for the year 2016

1. Nagy B, Nagy B, Fila L, et al (2016) Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis. Chest 150:661–72. doi: 10.1016/j.chest.2016.04.006
2. Paděrová J, Holubová A, Simandlová M, et al (2016) Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. Clin Genet 90:230–7. doi: 10.1111/cge.12754
3. Hubacek M, Kripnerova T, Nemcikova M, et al (2016) Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis. Neuro Endocrinol Lett 37:269–276.
4. Bolar NA, Golzio C, Živná M, et al (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet 99:174–87. doi: 10.1016/j.ajhg.2016.05.028
5. Hartmannová H, Piherová L, Tauchmannová K, et al (2016) Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet. doi: 10.1093/hmg/ddw245
6. Kousal B, Dudakova L, Gaillyova R, et al (2016) Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Graefe’s Arch Clin Exp Ophthalmol 1–7. doi: 10.1007/s00417-016-3358-2
7. Mizzi C, Dalabira E, Kumuthini J, et al (2016) A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One 11:e0162866. doi: 10.1371/journal.pone.0162866
8. Neřoldová M, Stránecký V, Hodaňová K, et al (2016) Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. Pharmacogenomics 17:1405–14. doi: 10.2217/pgs-2016-0071
9. Stránecký V, Neřoldová M, Hodaňová K, et al (2016) Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci. Physiol Res 1–19.
10. Weidler S, Stopsack KH, Hammermann J, et al (2016) A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening. J Cyst Fibros. doi: 10.1016/j.jcf.2016.07.0