Maria Franaszczyk

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the <i>TTN</i> Gene

Mohammed Akhtar, Massimiliano Lorenzini, Marcos Cicerchia et al. · Circulation Heart Failure · 2020 · 167 citations · Full text

Medicine, Cardiology, Genetics +15

Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

Maria Franaszczyk, Przemysław Chmielewski, Grażyna Truszkowska et al. · PLoS ONE · 2017 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +15

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

Maria Franaszczyk, Zofia T. Bilińska, Małgorzata Sobieszczańska‐Małek et al. · Journal of Translational Medicine · 2014 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Joanna Ponińska, Zofia T. Bilińska, Maria Franaszczyk et al. · Journal of Translational Medicine · 2016 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Thyroid Stimulating Hormone Receptor (TSHR) Intron 1 Variants Are Major Risk Factors for Graves' Disease in Three European Caucasian Cohorts

Rafał Płoski, Beata Jurecka‐Lubieniecka, Maria Franaszczyk et al. · PLoS ONE · 2010 · 42 citations · Full text

Life Sciences, Endocrinology, Genetics +16