Concepedia

Elżbieta Ciara

EC

Statistics

Publications

59

Citations

2.2K

H-Index

26

Active since

2001

Affiliations

Children's Memorial Health Institute(Current)

Medical University of Warsaw

Helmholtz Zentrum München

Technical University of Munich

Paracelsus Medical University

Elżbieta Ciara is an author at Children's Memorial Health Institute specializing in genetics, genetic disorders, and molecular genetics.

ORCID

Publications per year

2001–2022

59

Publications

59

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

, , +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

, , +16

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

, , +17

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 · 94 citations · Full text

, , +17

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 · 71 citations · Full text

, , +7

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