| 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 | 315 | 2011 |
| 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 | 164 | 2016 |
| Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer C Esteban-Jurado, M Vila-Casadesús, P Garre, JJ Lozano, ... Genetics in Medicine 17 (2), 131-142, 2015 | 112 | 2015 |
| Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness S Kmoch, J Majewski, V Ramamurthy, S Cao, S Fahiminiya, H Ren, ... Nature communications 6 (1), 5614, 2015 | 92 | 2015 |
| 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 |
| Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric … A García‐Cazorla, A Oyarzabal, J Fort, C Robles, E Castejon, ... Human mutation 35 (4), 470-477, 2014 | 84 | 2014 |
| Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene MJ Melia, A Kubota, S Ortolano, JJ Vílchez, J Gamez, K Tanji, E Bonilla, ... Brain 136 (5), 1508-1517, 2013 | 72 | 2013 |
| 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 | 69 | 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 |
| 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 | 56 | 2018 |
| New genes emerging for colorectal cancer predisposition C Esteban-Jurado, P Garre, M Vila, JJ Lozano, A Pristoupilova, S Beltrán, ... World journal of gastroenterology: WJG 20 (8), 1961, 2014 | 54 | 2014 |
| Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) SF Berkovic, JF Staropoli, S Carpenter, KL Oliver, S Kmoch, ... Neurology 87 (6), 579-584, 2016 | 39 | 2016 |
| Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans T Gstrein, A Edwards, A Přistoupilová, I Leca, M Breuss, S Pilat-Carotta, ... Nature neuroscience 21 (2), 207-217, 2018 | 37 | 2018 |
| Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature S Mazurova, M Magner, V Kucerova-Vidrova, A Vondrackova, ... Cardiology in the young 27 (5), 936-944, 2017 | 36 | 2017 |
| Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology Human Mutation, 2019 | 24 | 2019 |
| Rare variants in known and novel candidate genes predisposing to statin-associated myopathy M Neřoldová, V Stránecký, K Hodaňová, H Hartmannová, L Piherová, ... Pharmacogenomics 17 (13), 1405-1414, 2016 | 23 | 2016 |
| 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 | 23 | 2013 |
| 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 | 17 | 2019 |
| Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion J van den Ameele, I Jedlickova, A Pristoupilova, A Sieben, ... Neurology 90 (8), e658-e663, 2018 | 15 | 2018 |
| 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 |
