
Publications
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.
doi: 10.1017/S026646231800048X
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,
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
Steroid Hormone Production in Patients with Aldosterone Producing Adenomas
Hormone and Metabolic Research, 47/13, 967-972 (2015)
Authors: Moors, T. Williams, J. Deinum, G. Eisenhofer, M. Reincke, J. Lenders
Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing AdenomasNovelty and Significance
Hypertension, 67/1, 139-145 (2016)
Authors: Tracy Ann Williams, Mirko Peitzsch, Anna S. Dietz, Tanja Dekkers, Martin Bidlingmaier, Anna Riester, Marcus Treitl, Yara Rhayem, Felix Beuschlein, Jacques W.M. Lenders, Jaap Deinum, Graeme Eisenhofer, Martin Reincke
DOI : 10.1161/HYPERTENSIONAHA.115.06186
Beyond a Disease Registry: An Integrated Virtual Environment for Adrenal Cancer Research
Journal of Grid Computing, 14/4, 515-532 (2016)
Authors: Richard O. Sinnott, Felix Beuschlein, Jemie Effendy, Graeme Eisenhofer, Stephan Gloeckner, Anthony Stell
DOI : 10.1007/s10723-016-9375-x
Impact of LC-MS/MS on the laboratory diagnosis of catecholamine-producing tumors
TrAC Trends in Analytical Chemistry, 84, 106-116 (2016)
Authors: Graeme Eisenhofer, Mirko Peitzsch, Brett C. McWhinney
DOI : 10.1016/j.trac.2016.01.027
Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas
The Journal of Clinical Endocrinology & Metabolism, 102/4, 1122-1132 (2017)
Authors: Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J.L.M. Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A. Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O. Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism
JCI Insight, 2/8 (2017)
Authors: Wiebke Arlt, Katharina Lang, Alice J. Sitch, Anna S. Dietz, Yara Rhayem, Irina Bancos, Annette Feuchtinger, Vasileios Chortis, Lorna C. Gilligan, Philippe Ludwig, Anna Riester, Evelyn Asbach, Beverly A. Hughes, Donna M. O’Neil, Martin Bidlingmaier, Jeremy W. Tomlinson, Zaki K. Hassan-Smith, D. Aled Rees, Christian Adolf, Stefanie Hahner, Marcus Quinkler, Tanja Dekkers, Jaap Deinum, Michael Biehl, Brian G. Keevil, Cedric H.L. Shackleton, Jonathan J. Deeks, Axel K. Walch, Felix Beuschlein, Martin Reincke
DOI : 10.1172/jci.insight.93136
Reference intervals for plasma concentrations of adrenal steroids measured by LC-MS/MS: Impact of gender, age, oral contraceptives, body mass index and blood pressure status
Clinica Chimica Acta, 470, 115-124 (2017)
Authors: Graeme Eisenhofer, Mirko Peitzsch, Denise Kaden, Katharina Langton, Christina Pamporaki, Jimmy Masjkur, George Tsatsaronis, Anastasios Mangelis, Tracy A. Williams, Martin Reincke, Jacques W.M. Lenders, Stefan R. Bornstein
DOI : 10.1016/j.cca.2017.05.002
Regulation of Corticosteroidogenic Genes by MicroRNAs
International Journal of Endocrinology, 2017, 1-11 (2017)
Authors: Stacy Robertson, Louise A. Diver, Samantha Alvarez-Madrazo, Craig Livie, Ayesha Ejaz, Robert Fraser, John M. Connell, Scott M. MacKenzie, Eleanor Davies
Plasma methoxytyramine: clinical utility with metanephrines for diagnosis of pheochromocytoma and paraganglioma
European Journal of Endocrinology, 2, 103-113 (2017)
Authors: Rao, Dipti; Peitzsch, Mirko; Prejbisz, Aleksander; Hanus, Katarzyna; Fassnacht, Martin; Beuschlein, Felix; Brugger, Christina; Fliedner, Stephanie; Langton, Katharina; Pamporaki, Christina; Gudziol, Volker; Stell, Anthony; Januszewicz, Andrzej; Timmers, Henri J L M; Lenders, Jacques W M; Eisenhofer, Graeme
Cortisol-related metabolic alterations assessed by mass spectrometry assay in patients with Cushing's syndrome
European Journal of Endocrinology, 177/2, 227-237 (2017)
Authors: Guido Di Dalmazi, Marcus Quinkler, Timo Deutschbein, Cornelia Prehn, Nada Rayes, Matthias Kroiss, Christina M Berr, Günter Stalla, Martin Fassnacht, Jerzy Adamski, Martin Reincke, Felix Beuschlein
Outcomes after adrenalectomy for unilateral primary aldosteronism: an international consensus on outcome measures and analysis of remission rates in an international cohort
The Lancet Diabetes & Endocrinology, 5/9, 689-699 (2017)
Authors: Tracy A Williams, Jacques W M Lenders, Paolo Mulatero, Jacopo Burrello, Marietta Rottenkolber, Christian Adolf, Fumitoshi Satoh, Laurence Amar, Marcus Quinkler, Jaap Deinum, Felix Beuschlein, Kanako K Kitamoto, Uyen Pham, Ryo Morimoto, Hironobu Umakoshi, Aleksander Prejbisz, Tomaz Kocjan, Mitsuhide Naruse, Michael Stowasser, Tetsuo Nishikawa, William F Young, Celso E Gomez-Sanchez, John W Funder, Martin Reincke, Tracy Ann Williams, Celso E Gomez-Sanchez, John W Funder, Martin Reincke, Christian Adolf, Laurence Amar, Richard J Auchus, Detlef K Bartsch, Rene Baudrand, Felix Beuschlein, Peyman Björklund, Morris J Brown, Jacopo Burrello, Robert M Carey, Cristiana Catena, John M Connell, Jaap Deinum, Tanja Dekkers, Thomas J Fahey, Francesco Fallo, Carlos E. Fardella, Gilberta Giacchetti, Giuseppe Giraudo, Per Hellman, Andrzej Januszewicz, Kanako Kiriyama Kitamoto, Gregory A Kline, Tomaz Kocjan, Jacques W M Lenders, Franco Mantero, Barbra S Miller, Ryo Morimoto, Paolo Mulatero, Mitsuhide Naruse, Tetsuo Nishikawa, Uyen Pham, Pierre-François Plouin, Alexander Prejbisz, Marcus Quinkler, Marietta Rottenkolber, Christian L Rump, Fumitoshi Satoh, Leonardo A Sechi, Michael Stowasser, Hironobu Umakoshi, Franco Veglio, Jirí Widimský, Holger S Willenberg, William F Young
DOI : 10.1016/S2213-8587(17)30135-3
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
Nature Genetics, 50/3, 355-361 (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
Plasma Steroid Metabolome Profiling for Diagnosis and Subtyping Patients with Cushing Syndrome
Clinical Chemistry, 64/3, 586-596 (2018)
Authors: Graeme Eisenhofer, Jimmy Masjkur, Mirko Peitzsch, Guido Di Dalmazi, Martin Bidlingmaier, Matthias Grüber, Julia Fazel, Andrea Osswald, Felix Beuschlein, Martin Reincke
DOI : 10.1373/clinchem.2017.282582
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier
SLC25A11
Gene Confer a Predisposition to Metastatic Paragangliomas
Cancer Research,78/8, 1914-1922 (2018)
Authors: Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, Florence Habarou, Charlotte Lussey-Lepoutre, Eric Letouzé, Hervé Lefebvre, Isabelle Guilhem, Magalie Haissaguerre, Isabelle Raingeard, Mathilde Padilla-Girola, Thi Tran, Lucien Tchara, Jérôme Bertherat, Laurence Amar, Chris Ottolenghi, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Judith Favier
DOI : 10.1158/0008-5472.CAN-17-2463
The Research Data Management Platform (RDMP): A novel, process driven, open-source tool for the management of longitudinal cohorts of clinical data
GigaScience, P 115-124 (2018)
Authors: Thomas Nind, James Galloway, Gordon McAllister, Donald Scobbie, Wilfred Bonney, Christopher Hall, Leandro Tramma, Parminder Reel, Martin Groves, Philip Appleby, Alex Doney, Bruce Guthrie, Emily Jefferson

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
Latest News
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ENSAT-HT ExCom meeting November 2019
The most recent ENSAT-HT Executive Commitee meeting took place on 8th of November 2019 in Rotterdam. -
ENSAT-HT first Results !
ENSAT-HT consortium meeting 2019 First results for biomakers from machine learning have been presented at the ENSAT-HT consortium in Lyon, France on 16th May 2019 by our partner... -
Article on ENSAT-HT published in Italian newspaper
We are happy to announce that we have published a short lay public article on ENSAT‐HT in the Italian (paper) magazine Platinum, which is an inlay on science and innovation from... -
Article on ENSAT-HT available on European Commission "success stories" website
We are pleased to announce that the European Commission's publication services published...
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