Piotr Stawiński

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara et al. · Journal of Translational Medicine · 2016 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd et al. · Journal of Clinical Medicine · 2020 · 79 citations · Full text

Medicine, Genetics, Pediatrics +17

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković et al. · The American Journal of Human Genetics · 2018 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Guy M. Lenk, Krystyna Szymańska, Grażyna Dębska–Vielhaber et al. · The American Journal of Human Genetics · 2016 · 63 citations · Full text

Medicine, Molecular Genetics, Neurology +11