New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centreEwa Pronicka, Rafał Płoski, Dorota Piekutowska‐Abramczuk et al.|Journal of Translational Medicine|2016Cited by 233
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH casesEwa Pronicka, Mieczysław Litwin, Elżbieta Ciara et al.|Journal of Applied Genetics|2017Cited by 94
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L. Alston, Robert W. Taylor, Alison G. Compton et al.|The American Journal of Human Genetics|2016Cited by 70
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska‐Abramczuk, Johannes A. Mayr, Piotr Stawiński et al.|The American Journal of Human Genetics|2018Cited by 66
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genesAleksandra Jezela‐Stanek, Ewa Pronicka, Elżbieta Ciara et al.|European Journal of Paediatric Neurology|2016Cited by 51