Piotr Gasperowicz

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups

Magdalena Spólnicka, Ewelina Pośpiech, Beata Pepłońska et al. · International Journal of Legal Medicine · 2017 · 105 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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

Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Anna Kutkowska‐Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski et al. · Journal of Medical Genetics · 2018 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17

Evidence for <i>HNRNPH1</i> being another gene for Bain type syndromic mental retardation

Jacek Pilch, Agnieszka Koppolu, Anna Walczak et al. · Clinical Genetics · 2018 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17