Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis L Nosková, V Stránecký, H Hartmannová, A Přistoupilová, V Barešová, ... The American Journal of Human Genetics 89 (2), 241-252, 2011 | 317 | 2011 |
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing A Kirby, A Gnirke, DB Jaffe, V Barešová, N Pochet, B Blumenstiel, C Ye, ... Nature genetics 45 (3), 299-303, 2013 | 306 | 2013 |
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure M Živná, H Hůlková, M Matignon, K Hodaňová, P Vylet'al, M Kalbáčová, ... The American Journal of Human Genetics 85 (2), 204-213, 2009 | 186 | 2009 |
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia NA Bolar, C Golzio, M Živná, G Hayot, C Van Hemelrijk, D Schepers, ... The American Journal of Human Genetics 99 (1), 174-187, 2016 | 165 | 2016 |
All-in-one: achieving robust, strongly luminescent and highly dispersible hybrid materials by combining ionic and coordinate bonds in molecular crystals W Liu, K Zhu, SJ Teat, G Dey, Z Shen, L Wang, DM O’Carroll, J Li Journal of the American Chemical Society 139 (27), 9281-9290, 2017 | 157 | 2017 |
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome P Vylet'Al, M Kublova, M Kalbáčová, K Hodaňová, V Barešová, ... Kidney international 70 (6), 1155-1169, 2006 | 145 | 2006 |
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model C Martins, H Hůlková, L Dridi, V Dormoy-Raclet, L Grigoryeva, Y Choi, ... Brain 138 (2), 336-355, 2015 | 140 | 2015 |
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation EJ Park, KA Grabińska, Z Guan, V Stránecký, H Hartmannová, ... Cell metabolism 20 (3), 448-457, 2014 | 134 | 2014 |
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens H Hůlková, M Elleder Histopathology 60 (7), 1107-1113, 2012 | 114 | 2012 |
Mutations in ANTXR1 cause GAPO syndrome V Stránecký, A Hoischen, H Hartmannová, MS Zaki, A Chaudhary, ... The American Journal of Human Genetics 92 (5), 792-799, 2013 | 92 | 2013 |
Blending ionic and coordinate bonds in hybrid semiconductor materials: a general approach toward robust and solution-processable covalent/coordinate network structures X Hei, W Liu, K Zhu, SJ Teat, S Jensen, M Li, DM O’Carroll, K Wei, K Tan, ... Journal of the American Chemical Society 142 (9), 4242-4253, 2020 | 77 | 2020 |
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis A Sharifi, M Kousi, C Sagné, GC Bellenchi, L Morel, M Darmon, ... Human molecular genetics 19 (22), 4497-4514, 2010 | 72 | 2010 |
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 H Hartmannová, L Piherová, K Tauchmannová, K Kidd, PD Acott, ... Human Molecular Genetics 25 (18), 4062-4079, 2016 | 68 | 2016 |
Prosaposin deficiency-a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient M Elleder, M Jeřábková, A Befekadu, M Hřebíček, L Berna, J Ledvinova, ... Neuropediatrics 36 (03), 171-180, 2005 | 63 | 2005 |
Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease M Živná, K Kidd, A Přistoupilová, V Barešová, M DeFelice, B Blumenstiel, ... Journal of the American Society of Nephrology 29 (9), 2418-2431, 2018 | 57 | 2018 |
A new type of hybrid copper iodide as nontoxic and ultrastable LED emissive layer material K Zhu, Z Cheng, S Rangan, M Cotlet, J Du, L Kasaei, SJ Teat, W Liu, ... ACS Energy Letters 6 (7), 2565-2574, 2021 | 51 | 2021 |
Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model EM Bublil, T Majtan, I Park, RS Carrillo, H Hůlková, J Krijt, V Kožich, ... The Journal of Clinical Investigation 126 (6), 2372-2384, 2016 | 47 | 2016 |
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41 K Hodaňová, J Majewski, M Kublová, P Vyleťal, M Kalbáčová, ... Kidney international 68 (4), 1472-1482, 2005 | 47 | 2005 |
A mechanochemical route toward the rational, systematic, and cost-effective green synthesis of strongly luminescent copper iodide based hybrid phosphors W Liu, K Zhu, SJ Teat, BJ Deibert, W Yuan, J Li Journal of Materials Chemistry C 5 (24), 5962-5969, 2017 | 45 | 2017 |
Fluorescent In based MOFs showing “turn on” luminescence towards thiols and acting as a ratiometric fluorescence thermometer ZF Wu, B Tan, E Velasco, H Wang, NN Shen, YJ Gao, X Zhang, K Zhu, ... Journal of Materials Chemistry C 7 (10), 3049-3055, 2019 | 43 | 2019 |