Ewa Pronicka

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

Fiona Francis, Steffen Hennig, Bernd Korn et al. · Nature Genetics · 1995 · 1.1K citations

Genetic Disorder, Genetics, X–linked Hypophosphatemic Rickets +3

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann et al. · Journal of the American Society of Nephrology · 2015 · 270 citations · Full text

Autosomal-recessive Mutations, Metabolic Disorder, Genetics +19

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

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 205 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Function +7

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.

Damian Labuda, Maria Korab-Laskowska, David E.C. Cole et al. · PubMed · 1996 · 143 citations