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

Life Sciences, Genetics, Molecular Genetics +11

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 · 282 citations · Full text

Medicine, Endocrinology, Genetics +17

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

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 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Nutritional Sciences +17