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 | 227 | 2016 |
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 |
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 |
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 | 60 | 2016 |
Rapid whole-exome sequencing as a diagnostic tool in a neonatal/pediatric intensive care unit R Śmigiel, M Biela, K Szmyd, M Błoch, E Szmida, P Skiba, A Walczak, ... Journal of Clinical Medicine 9 (7), 2220, 2020 | 51 | 2020 |
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 |
Biallelic mutations of VAC14 in pediatric-onset neurological disease GM Lenk, K Szymanska, G Debska-Vielhaber, M Rydzanicz, A Walczak, ... The American Journal of Human Genetics 99 (1), 188-194, 2016 | 49 | 2016 |
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 |
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 |
Insights into the transposable mobilome of Paracoccus spp.(Alphaproteobacteria) L Dziewit, J Baj, M Szuplewska, A Maj, M Tabin, A Czyzkowska, ... PLoS One 7 (2), e32277, 2012 | 40 | 2012 |
SETD5 loss‐of‐function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression K Szczałuba, M Brzezinska, J Kot, M Rydzanicz, A Walczak, P Stawiński, ... American journal of medical genetics Part A 170 (9), 2322-2327, 2016 | 39 | 2016 |
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe A Ścieżyńska, D Oziębło, AM Ambroziak, M Korwin, K Szulborski, ... Experimental eye research 145, 93-99, 2016 | 38 | 2016 |
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ... Genetics in Medicine 22 (12), 2041-2051, 2020 | 37 | 2020 |
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and … R Smigiel, DL Sherman, M Rydzanicz, A Walczak, D Mikolajkow, ... Human molecular genetics 27 (21), 3669-3674, 2018 | 33 | 2018 |
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous … GT Truszkowska, ZT Bilińska, J Kosińska, J Śleszycka, M Rydzanicz, ... BMC medical genetics 16, 1-9, 2015 | 32 | 2015 |
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss A Pollak, U Lechowicz, A Kędra, P Stawiński, M Rydzanicz, M Furmanek, ... PloS one 11 (12), e0166618, 2016 | 30 | 2016 |
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression M Rydzanicz, M Wachowska, EC Cook, P Lisowski, B Kuźniewska, ... European Journal of Human Genetics 27 (1), 61-69, 2019 | 29 | 2019 |
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy R Smigiel, G Kostrzewa, J Kosinska, A Pollak, P Stawinski, E Szmida, ... American Journal of Medical Genetics Part A 170 (12), 3265-3270, 2016 | 27 | 2016 |
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations E Ciara, D Rokicki, M Lazniewski, H Mierzewska, E Jurkiewicz, ... Journal of Human Genetics 63 (4), 473-485, 2018 | 23 | 2018 |