Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, Unknown, Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite - Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A. A. Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka ‘Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

Open source

DOI: 10.1186/s13023-020-01420-w
Published: 2020-06-08
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1186/s13023-020-01420-w,
  title = {Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)},
  author = {Thomas Eggermann and Miriam Elbracht and Ingo Kurth and Anders Juul and Trine Holm Johannsen and Irène Netchine and George Mastorakos and Gudmundur Johannsson and Thomas J. Musholt and Martin Zenker and Dirk Prawitt and Alberto M. Pereira and Olaf Hiort and Unknown and Stefan Riedl and Birgit Rami-Merhar and Greisa Vila and Sabina Baumgartner-Parzner and Walter Bonfig and Claudine Heinrichs and Dominique Maiter and Inge Gies and Martine Cools and Kristina Casteels and Albert Beckers and Sabina Zacharieva and Violeta Iotova and Tomislav Jukic and Dario Rahelic and Vassos Neocleous and Leonidas Phylactou and Michal Krsek and Jan Lebl and Claus Gravholt and Anders Juul and Vallo Tillmann and Vallo Volke and Tapani Ebeling and Thierry Brue and Patrice Rodien and Jérôme Bertherat and Christine Poitou Bernert and Philippe Touraine and Philippe Chanson and Michel Polak and Maithe Tauber and Thomas Eggermann and Joachim Spranger and Dagmar Fuhrer and Thomas Danne and Olaf Hiort and Klaus Mohnike and Dirk Prawitt and Markus Luster and Nicole Reisch and Martin Reincke and Julia Rohayem and Martin Fassnacht and Miklós Tóth and Alessandra Cassio and Sonia Toni and Csilla Krausz and Barbara Piccini and Diego Ferone and Gianni Russo and Luca Persani and Annamaria Colao and Mariacarolina Salerno and Marco Boscaro and Carla Scaroni and Ferruccio Santini and Giovanni Ceccarini and Ezio Ghigo and Iveta Dzivite - Krisane and Vita Rovite and Lauma Janozola and Rasa Verkauskiene and Michael Witsch and James Clark and Johannes Romijn and Thera Links and Nienke Biermasz and Sabine Hannema and Bas Havekes and Hedi Claahsen-van der Grinten and Henri Timmers and Robin Peeters and Gerlof Valk and A. A. Verrijn Stuart and Harm Haak and Eystein Husebye and Jens Bollerslev and Barbara Jarzab and Agnieszka ‘Szypowska and João-Filipe Raposo and Dana Craiu and Doina Piciu and Ludmila Kostalova and Jarmila Vojtková and Tadej Battelino and Roque Cardona-Hernandez and Diego Yeste and Sonia Gaztambide and Anna Nordenström and Neil Gittoes and Trevor Cole and Elizabeth Crowne and Faisal Ahmed and Mohammed Didi and Marta Korbonits and Mehul Dattani and Peter Clayton and Justin Davies},
  year = {2020},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-020-01420-w},
  url = {https://doi.org/10.1186/s13023-020-01420-w}
}

RIS

TY  - JOUR
TI  - Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
AU  - Thomas Eggermann
AU  - Miriam Elbracht
AU  - Ingo Kurth
AU  - Anders Juul
AU  - Trine Holm Johannsen
AU  - Irène Netchine
AU  - George Mastorakos
AU  - Gudmundur Johannsson
AU  - Thomas J. Musholt
AU  - Martin Zenker
AU  - Dirk Prawitt
AU  - Alberto M. Pereira
AU  - Olaf Hiort
AU  - Unknown
AU  - Stefan Riedl
AU  - Birgit Rami-Merhar
AU  - Greisa Vila
AU  - Sabina Baumgartner-Parzner
AU  - Walter Bonfig
AU  - Claudine Heinrichs
AU  - Dominique Maiter
AU  - Inge Gies
AU  - Martine Cools
AU  - Kristina Casteels
AU  - Albert Beckers
AU  - Sabina Zacharieva
AU  - Violeta Iotova
AU  - Tomislav Jukic
AU  - Dario Rahelic
AU  - Vassos Neocleous
AU  - Leonidas Phylactou
AU  - Michal Krsek
AU  - Jan Lebl
AU  - Claus Gravholt
AU  - Anders Juul
AU  - Vallo Tillmann
AU  - Vallo Volke
AU  - Tapani Ebeling
AU  - Thierry Brue
AU  - Patrice Rodien
AU  - Jérôme Bertherat
AU  - Christine Poitou Bernert
AU  - Philippe Touraine
AU  - Philippe Chanson
AU  - Michel Polak
AU  - Maithe Tauber
AU  - Thomas Eggermann
AU  - Joachim Spranger
AU  - Dagmar Fuhrer
AU  - Thomas Danne
AU  - Olaf Hiort
AU  - Klaus Mohnike
AU  - Dirk Prawitt
AU  - Markus Luster
AU  - Nicole Reisch
AU  - Martin Reincke
AU  - Julia Rohayem
AU  - Martin Fassnacht
AU  - Miklós Tóth
AU  - Alessandra Cassio
AU  - Sonia Toni
AU  - Csilla Krausz
AU  - Barbara Piccini
AU  - Diego Ferone
AU  - Gianni Russo
AU  - Luca Persani
AU  - Annamaria Colao
AU  - Mariacarolina Salerno
AU  - Marco Boscaro
AU  - Carla Scaroni
AU  - Ferruccio Santini
AU  - Giovanni Ceccarini
AU  - Ezio Ghigo
AU  - Iveta Dzivite - Krisane
AU  - Vita Rovite
AU  - Lauma Janozola
AU  - Rasa Verkauskiene
AU  - Michael Witsch
AU  - James Clark
AU  - Johannes Romijn
AU  - Thera Links
AU  - Nienke Biermasz
AU  - Sabine Hannema
AU  - Bas Havekes
AU  - Hedi Claahsen-van der Grinten
AU  - Henri Timmers
AU  - Robin Peeters
AU  - Gerlof Valk
AU  - A. A. Verrijn Stuart
AU  - Harm Haak
AU  - Eystein Husebye
AU  - Jens Bollerslev
AU  - Barbara Jarzab
AU  - Agnieszka ‘Szypowska
AU  - João-Filipe Raposo
AU  - Dana Craiu
AU  - Doina Piciu
AU  - Ludmila Kostalova
AU  - Jarmila Vojtková
AU  - Tadej Battelino
AU  - Roque Cardona-Hernandez
AU  - Diego Yeste
AU  - Sonia Gaztambide
AU  - Anna Nordenström
AU  - Neil Gittoes
AU  - Trevor Cole
AU  - Elizabeth Crowne
AU  - Faisal Ahmed
AU  - Mohammed Didi
AU  - Marta Korbonits
AU  - Mehul Dattani
AU  - Peter Clayton
AU  - Justin Davies
PY  - 2020
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-020-01420-w
UR  - https://doi.org/10.1186/s13023-020-01420-w
ER  -

APA

Eggermann, T., Elbracht, M., Kurth, I., Juul, A., Johannsen, T. H., Netchine, I., Mastorakos, G., Johannsson, G., Musholt, T. J., Zenker, M., Prawitt, D., Pereira, A. M., Hiort, O., Unknown, Riedl, S., Rami-Merhar, B., Vila, G., Baumgartner-Parzner, S., Bonfig, W., Heinrichs, C., Maiter, D., Gies, I., Cools, M., Casteels, K., Beckers, A., Zacharieva, S., Iotova, V., Jukic, T., Rahelic, D., Neocleous, V., Phylactou, L., Krsek, M., Lebl, J., Gravholt, C., Juul, A., Tillmann, V., Volke, V., Ebeling, T., Brue, T., Rodien, P., Bertherat, J., Bernert, C. P., Touraine, P., Chanson, P., Polak, M., Tauber, M., Eggermann, T., Spranger, J., Fuhrer, D., Danne, T., Hiort, O., Mohnike, K., Prawitt, D., Luster, M., Reisch, N., Reincke, M., Rohayem, J., Fassnacht, M., Tóth, M., Cassio, A., Toni, S., Krausz, C., Piccini, B., Ferone, D., Russo, G., Persani, L., Colao, A., Salerno, M., Boscaro, M., Scaroni, C., Santini, F., Ceccarini, G., Ghigo, E., Krisane, I. D. -., Rovite, V., Janozola, L., Verkauskiene, R., Witsch, M., Clark, J., Romijn, J., Links, T., Biermasz, N., Hannema, S., Havekes, B., Grinten, H. C. D., Timmers, H., Peeters, R., Valk, G., Stuart, A. A. V., Haak, H., Husebye, E., Bollerslev, J., Jarzab, B., ‘Szypowska, A., Raposo, J., Craiu, D., Piciu, D., Kostalova, L., Vojtková, J., Battelino, T., Cardona-Hernandez, R., Yeste, D., Gaztambide, S., Nordenström, A., Gittoes, N., Cole, T., Crowne, E., Ahmed, F., Didi, M., Korbonits, M., Dattani, M., Clayton, P., & Davies, J. (2020). Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-020-01420-w

Source records

crossref · retrieved 2026-11-10T15:06:43.306Z