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Piotr Stawinski
Piotr Stawinski
Zweryfikowany adres z wum.edu.pl
Tytuł
Cytowane przez
Cytowane przez
Rok
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
2312016
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
962014
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
852017
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
612016
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
532016
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
522018
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
512020
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
502016
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
492017
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
412017
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
402016
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
402012
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
392020
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
392016
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
332018
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
322015
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
302019
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
302016
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
272016
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
262018
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