Evidence required by Health Technology Assessement and reimboursement bodies evaluating diagnostic or prognostic algorithms that include omics data
International Journal of Technology Assessment in Health Care, 34:4 (2018), 1–10.
Authors: Barna A, Cruz-Sanchez TM, Brigham KB, Thuong CT, Kristensen FB, Durand-Zaleski I.
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
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
Nature Reviews Endocrinology
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
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,
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Union’s Horizon 2020
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 633983
This year the ENSAT-HT consortium meeting will take place in Lyon, France from 16th to 17th May 2019.
Members from our Scientific Advisory Board will also be invited.