A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Nature Genetics volume 50, pages355–361 (2018)

Authors: Fabio L. Fernandes-Rosa, Georgios Daniil, Ian J. Orozco, Corinna Göppner, Rami El Zein, Vandana Jain, Sheerazed Boulkroun, Xavier Jeunemaitre, Laurence Amar, Hervé Lefebvre, Thomas Schwarzmayr, Tim M. Strom, Thomas J. Jentsch & Maria-Christina Zennaro

doi:10.1038/s41588-018-0053-8

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

Nature Reviews Endocrinology(2016)

Authors: The NGS in PPGL (NGSnPPGL) Study Group, Rodrigo A. Toledo, Nelly Burnichon, Alberto Cascon,Diana E. Benn, Jean-Pierre Bayley,Jenny Welander, Carli M. Tops, Helen Firth, Trish Dwight, Tonino Ercolino, Massimo Mannelli, Giuseppe Opocher, Roderick Clifton-Bligh, Oliver Gimm, Eamonn R. Maher, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo& Patricia L. M. Dahia

doi:10.1038/nrendo.2016.185

Mass Spectrometry–Based Adrenal and Peripheral Venous Steroid Profiling for Subtyping Primary Aldosteronism

Clinical Chemistry 62:3 000 – 000 (2016)

Authors: Graeme Eisenhofer,Tanja Dekkers,Mirko Peitzsch, Anna S. Dietz,,Martin Bidlingmaier, Marcus Treitl,Tracy A. Williams, Stefan R. Bornstein, Matthias Haase, L.C. Rump, Holger S. Willenberg,
Felix Beuschlein, Jaap Deinum, Jacques W.M. Lenders, and Martin Reincke

DOI:10.1373/cli nchem.20 15.251199

Pheochromocytoma and paraganglioma: molecular testing and personalized medicine

Current Opinion in Oncology [2016, 28(1):5-10]

Authors: Burnichon N , Buffet A , Gimenez-Roqueplo AP

DOI: 10.1097/CCO.0000000000000249