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Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

Crossref DOI link: https://doi.org/10.1038/s41525-025-00548-7

Published Online: 2026-01-15

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Trivellin, Giampaolo

Sánchez-Gaya, Víctor

Grasso, Alexia

Pasińska, Magdalena

Stratakis, Constantine A.

Milnes, Di

Kirk, Edwin P.

Beckers, Albert

Lania, Andrea G.

Pétrossians, Patrick

Rada-Iglesias, Alvaro

Franke, Martin

Daly, Adrian F.
Funding

Funding for this research was provided by:

Fondazione Telethon (GGP20130)

Fondazione Telethon (GGP20130)

Ministero dell’Istruzione, dell’Università e della Ricerca (MSCA_0000055)

NextGenerationEU (Generation D initiative)

Eunice Kennedy Shriver National Institute of Child Health and Human Development (Z1A HD008920)

'la Caixa' Foundation (100010434)

Centre Hospitalier Universitaire de Liège (Fonds d’Investissment pour la Recherche Scientifique 2018-2023)

Université de Liège (FSR-F-2023-FM)
License Information

Text and Data Mining valid from 2026-01-15

Accepted Manuscript valid from 2026-01-15
More Information

Article History

Received: 10 July 2025

Accepted: 27 December 2025

First Online: 15 January 2026

Competing interests

: AFD, CAS, and GT hold a patent on GPR101 and its function (US Patent No. 10,350,273, Treatment of Hormonal Disorders of Growth). The authors declare no other competing interests.

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