| GJB2 mutations and degree of hearing loss: a multicenter study RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ... The American Journal of Human Genetics 77 (6), 945-957, 2005 | 669 | 2005 |
| New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre E Pronicka, D Piekutowska-Abramczuk, E Ciara, J Trubicka, D Rokicki, ... Journal of translational medicine 14, 1-19, 2016 | 226 | 2016 |
| M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance A Pollak, A Skórka, M Mueller‐Malesińska, G Kostrzewa, B Kisiel, ... American journal of medical genetics Part A 143 (21), 2534-2543, 2007 | 124 | 2007 |
| Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy? R Płoski, A Pollak, S Müller, M Franaszczyk, E Michalak, J Kosinska, ... Circulation research 114 (2), e2-e5, 2014 | 96 | 2014 |
| Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of … B Stolarski, E Pronicka, L Korniszewski, A Pollak, G Kostrzewa, ... Clinical genetics 70 (4), 348-354, 2006 | 92 | 2006 |
| Titin truncating variants in dilated cardiomyopathy–prevalence and genotype-phenotype correlations M Franaszczyk, P Chmielewski, G Truszkowska, P Stawinski, E Michalak, ... PLoS One 12 (1), e0169007, 2017 | 84 | 2017 |
| Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss M Rydzanicz, M Wróbel, A Pollak, W Gawęcki, D Brauze, ... Biochemical and biophysical research communications 395 (1), 116-121, 2010 | 66 | 2010 |
| Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene N Hilgert, MJ Huentelman, AQ Thorburn, E Fransen, N Dieltjens, ... European journal of human genetics 17 (4), 517-524, 2009 | 60 | 2009 |
| Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations JK Poninska, ZT Bilinska, M Franaszczyk, E Michalak, M Rydzanicz, ... Journal of Translational Medicine 14, 1-17, 2016 | 59 | 2016 |
| Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: unexpected detection of human herpesvirus 1 while searching for RNA pathogens K Perlejewski, M Popiel, T Laskus, S Nakamura, D Motooka, T Stokowy, ... Journal of virological methods 226, 1-6, 2015 | 59 | 2015 |
| NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy D Piekutowska-Abramczuk, Z Assouline, L Mataković, RG Feichtinger, ... The American Journal of Human Genetics 102 (3), 460-467, 2018 | 51 | 2018 |
| Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy R Ploski, M Rydzanicz, TM Ksiazczyk, M Franaszczyk, A Pollak, ... American Journal of Medical Genetics Part A 170 (12), 3241-3248, 2016 | 51 | 2016 |
| Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features A Kutkowska-Kaźmierczak, M Rydzanicz, A Chlebowski, ... Journal of medical genetics 55 (6), 408-414, 2018 | 48 | 2018 |
| Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease H Mierzewska, M Rydzanicz, T Biegański, J Kosinska, ... Clinical Genetics 91 (1), 30-37, 2017 | 48 | 2017 |
| Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls M Adamowicz, R Płoski, D Rokicki, E Morava, M Giżewska, H Mierzewska, ... Journal of inherited metabolic disease 30, 407-407, 2007 | 45 | 2007 |
| Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome M Ołdak, D Oziębło, A Pollak, I Stępniak, M Lazniewski, U Lechowicz, ... Journal of translational medicine 15, 1-13, 2017 | 44 | 2017 |
| Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy GT Truszkowska, ZT Bilińska, A Muchowicz, A Pollak, A Biernacka, ... Scientific reports 7 (1), 3362, 2017 | 40 | 2017 |
| Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation JP Szaflik, M Ołdak, RB Maksym, A Kamińska, A Pollak, M Udziela, ... Molecular Vision 14, 1713, 2008 | 35 | 2008 |
| KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy M Rydzanicz, M Jagła, J Kosinska, T Tomasik, A Sobczak, A Pollak, ... Clinical Genetics 91 (5), 769-773, 2017 | 32 | 2017 |
| Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population J Gruchota, E Pronicka, L Korniszewski, B Stolarski, A Pollak, ... Molecular genetics and metabolism 87 (4), 376-378, 2006 | 32 | 2006 |
