Elżbieta Ciara

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

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

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

Ewa Pronicka, Elżbieta Ciara, Paulina Halat et al. · Journal of Applied Genetics · 2017 · 92 citations · Full text

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

Martina Witsch‐Baumgartner, Elżbieta Ciara, Jürgen Löffler et al. · European Journal of Human Genetics · 2001 · 70 citations · Full text

Smith-lemli-opitz Syndrome, Mendelian Disorder, Dhcr7 Mutations +10