Dorota Piekutowska‐Abramczuk

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 · 226 citations · Full text

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

Raymonda Varon, E Seemanová, Krystyńa Chrzańowska et al. · European Journal of Human Genetics · 2000 · 152 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz et al. · Pediatric Research · 2005 · 109 citations · Full text

Multicentric Study, Pediatric Hematology, Inherited Metabolic Disease +7

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebıan et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8