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

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 

 

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

DOI : 10.1055/s-0035-1565225

 

 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

DOI : 10.1210/jc.2016-3829

 

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

DOI : 10.1155/2017/2021903

 

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

DOI : 10.5167/uzh-138824

 

 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

DOI : 10.1530/EJE-17-0109

 

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

DOI : 10.1093/gigascience/giy060