| Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver E van de Steeg, V Stránecký, H Hartmannová, L Nosková, M Hřebíček, ... The Journal of clinical investigation 122 (2), 519-528, 2012 | 432 | 2012 |
| 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 |
| TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy A Čížková, V Stránecký, JA Mayr, M Tesařová, V Havlíčková, J Paul, ... Nature genetics 40 (11), 1288-1290, 2008 | 260 | 2008 |
| Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) M Hřebíček, L Mrázová, V Seyrantepe, S Durand, NM Roslin, L Nosková, ... The American Journal of Human Genetics 79 (5), 807-819, 2006 | 122 | 2006 |
| 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 |
| The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro E Pamula, L Bacakova, E Filova, J Buczynska, P Dobrzynski, L Noskova, ... Journal of Materials Science: Materials in Medicine 19, 425-435, 2008 | 89 | 2008 |
| Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 AE Davidson, P Liskova, CJ Evans, L Dudakova, L Noskova, N Pontikos, ... The American Journal of Human Genetics 98 (1), 75-89, 2016 | 79 | 2016 |
| Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene H Hartmannova, M Kubanek, M Sramko, L Piherova, L Noskova, ... Circulation: Cardiovascular Genetics 6 (6), 543-551, 2013 | 61 | 2013 |
| Expression and processing of the TMEM70 protein K Hejzlarová, M Tesařová, A Vrbacká-Čížková, M Vrbacký, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1807 (1), 144-149, 2011 | 43 | 2011 |
| Rotor‐type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump M Hřebíček, T Jirásek, H Hartmannová, L Nosková, V Stránecký, R Ivánek, ... Liver International 27 (4), 485-491, 2007 | 30 | 2007 |
| Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F 1 F o ATP … A Čížková, V Stránecký, R Ivánek, H Hartmannová, L Nosková, ... BMC genomics 9, 1-18, 2008 | 29 | 2008 |
| Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder PE Schneeberger, F Kortüm, GC Korenke, M Alawi, R Santer, M Woidy, ... Brain 143 (8), 2437-2453, 2020 | 28 | 2020 |
| Nanocomposite Ti/hydrocarbon plasma polymer films from reactive magnetron sputtering as growth support for osteoblast‐like and endothelial cells A Grinevich, L Bacakova, A Choukourov, H Boldyryeva, Y Pihosh, ... Journal of Biomedical Materials Research Part A: An Official Journal of The …, 2009 | 26 | 2009 |
| Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p. A58V R Ehling, L Nosková, V Stránecký, H Hartmannová, A Přistoupilová, ... Journal of the Neurological Sciences 326 (1-2), 75-82, 2013 | 24 | 2013 |
| Assembly of osteoblastic cell micro-arrays on diamond guided by protein pre-adsorption B Rezek, E Ukraintsev, A Kromka, M Ledinský, A Brož, L Nosková, ... Diamond and related materials 19 (2-3), 153-157, 2010 | 24 | 2010 |
| DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome SL Stenton, M Tesarova, NL Sheremet, CB Catarino, V Carelli, E Ciara, ... Brain 145 (5), 1624-1631, 2022 | 22 | 2022 |
| A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis J Sikora, T Kmochová, D Mušálková, M Pohludka, P Přikryl, ... Kidney international 101 (2), 349-359, 2022 | 16 | 2022 |
| Rare copy number variation in extremely impulsively violent males J Vevera, M Zarrei, H Hartmannová, I Jedličková, D Mušálková, ... Genes, Brain and Behavior 18 (6), e12536, 2019 | 16 | 2019 |
| Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing I Jedličková, M Cadieux-Dion, A Přistoupilová, V Stránecký, ... European Journal of Human Genetics 28 (6), 783-789, 2020 | 14 | 2020 |
| Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing I Jedličková, A Přistoupilová, L Nosková, F Majer, V Stránecký, ... Molecular Genetics & Genomic Medicine 8 (7), e1238, 2020 | 12 | 2020 |
