- Hubalek Kalbacova M., Verdanova M., Broz A., Vetushka A, Fejfar A., Kalbac M.: Modulated surface of single-layer graphene controls cell behavior. Carbon, 72: 207-214, 2014 – IF 5,868
- Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. IF 5,068
- Bhasin B, Stiburkova B, De Castro-Pretelt M, Beck N, Bodurtha JN, Atta MG. Hereditary renal hypouricemia: a new role for allopurinol? Am J Med. 2014 Jan;127(1):e3-4. IF 4,768
- Hůlková H, Svojanovský J, Sevela K, Krusová D, Hanuš J, Vězda P, Souček M, Márová I, Feit J, Zambo I, Kovačevicova M, Vlášková H, Kostrouchová M, Novák P, Kostrouch Z, Elleder M.
Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma. Amyloid. 2014 Mar; 21(1):57-61. IF 4,436
- Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M. Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. Eur J Hum Genet. 2014 Mar;22(3):431-4. IF 4,319
- Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet. 2014 Feb;22(2):160-70 IF 4,319
- Neřoldová M, Fraňková S, Stránecký V, Honsová E, Lukšan O, Beneš M, Michalová K, KmochS, Jirsa M. Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy. Clin Genet. 2014 Feb 12. IF 4,247
- Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. J Inherit Metab Dis. 2014 Jan;37(1):117-24. IF 4,070
- Palecek T, Honzikova J, Poupetova H, Vlaskova H, Kuchynka P, Golan L, Magage S, Linhart A.
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).
J Inherit Metab Dis. 2014 May;37(3):455-60. IF 4,070
- Jurkowska H, Roman HB, Hirschberger LL, Sasakura K, Nagano T, Hanaoka K, Krijt J, Stipanuk MH. Primary hepatocytes from mice lacking cysteine dioxygenase show increased cysteine concentrations and higher rates of metabolism of cysteine to hydrogen sulfide and thiosulfate. Amino Acids. 2014 May;46(5):1353-65. IF 3,914
- Stibůrková B, Pavlíková M, Sokolová J, Kožich V. Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric Acid concentration. PLoS One. 2014 May 14;9(5):e97646. IF 3.730
- Fucikova A., Valenta J, Pelant M., Hubelek Kalbacova M., Broz A., Rezek B., Kromka A, Bakaeva Z. Silicon nanocrystals and nanodiamonds in live cells: photoluminescence characteristics, cytotoxicity and interaction with cell cytoskeleton. RSC Advances, 4: 10334-10342, 2014 – IF 2,562
- Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. Clin Biochem. 2013 Dec;46(18):1899-901. doi: 10.1016/j.clinbiochem.2013.10.018. IF 2,450
