Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
Authors
- Şükran Poyrazoğlu (ORCID: https://orcid.org/0000-0001-6806-9678)
- Małgorzata Waśniewska (ORCID: https://orcid.org/0000-0002-8299-2677)
- Zofia Kolesińska
- Ieuan A. Hughes
- Evgenia Globa (ORCID: https://orcid.org/0000-0001-7885-8195)
- Murat Aydın (ORCID: https://orcid.org/0000-0002-0167-0802)
- Anna Casteràs (ORCID: https://orcid.org/0000-0003-4719-065X)
- Anna Lauber-Biason
- Semra Çeti̇nkaya (ORCID: https://orcid.org/0000-0003-3974-2872)
- Justin H. Davies (ORCID: https://orcid.org/0000-0001-7560-6320)
- Julia Mührer
- Ajay Thankamony (ORCID: https://orcid.org/0000-0001-6290-3553)
- Núria Camats (ORCID: https://orcid.org/0000-0002-4863-8201)
- Courtney Finlayson (ORCID: https://orcid.org/0000-0001-9704-4525)
- Jamala Mammadova
- Olaf Hiort (ORCID: https://orcid.org/0000-0001-7490-4983)
- Kay‐Sara Sauter (ORCID: https://orcid.org/0000-0002-6912-324X)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- Ariadna Campos-Martorell (ORCID: https://orcid.org/0000-0002-8134-4934)
- Alina German (ORCID: https://orcid.org/0000-0003-0934-9420)
- Amaia Rodrı́guez (ORCID: https://orcid.org/0000-0002-2180-461X)
- Emilio García García (ORCID: https://orcid.org/0000-0001-7108-4086)
- Grit Sommer (ORCID: https://orcid.org/0000-0002-4205-7932)
- L. Tack
- Meilan Marianne Rutter (ORCID: https://orcid.org/0000-0003-4142-9527)
- Josephine Hirsch (ORCID: https://orcid.org/0000-0002-3898-9614)
- Marco Janner (ORCID: https://orcid.org/0000-0001-9081-577X)
- Sabine E Hannema (ORCID: https://orcid.org/0000-0002-8996-0993)
- Dagmar l’Allemand (ORCID: https://orcid.org/0000-0003-3144-3907)
- David Zangen (ORCID: https://orcid.org/0000-0002-9575-9436)
- Júlio Guerrero
- Angela Lucas-Herald (ORCID: https://orcid.org/0000-0003-2662-1684)
- Rieko Tadokoro‐Cuccaro (ORCID: https://orcid.org/0000-0003-4012-7033)
- Isabel Mönig (ORCID: https://orcid.org/0000-0001-5071-6419)
- Jose M. Rial
- Chrysanthi Kouri (ORCID: https://orcid.org/0000-0002-7225-593X)
- Saygın Abalı (ORCID: https://orcid.org/0000-0001-6552-2801)
- S. Faisal Ahmed (ORCID: https://orcid.org/0000-0003-0689-5549)
- Kanetee Busiah (ORCID: https://orcid.org/0000-0002-1059-0791)
- Federico Baronio (ORCID: https://orcid.org/0000-0003-3470-6880)
- Idoia Martinez de la Piscina (ORCID: https://orcid.org/0000-0001-8943-1429)
- Luís Castaño (ORCID: https://orcid.org/0000-0003-0437-9401)
- Katherine Lachlan (ORCID: https://orcid.org/0000-0002-3816-7346)
- Antonio Balsamo (ORCID: https://orcid.org/0000-0002-9313-263X)
- Uchenna Kennedy (ORCID: https://orcid.org/0000-0001-8662-5033)
- Н. Б. Зелінська
- Gil Guerra‐Júnior (ORCID: https://orcid.org/0000-0002-2991-7678)
- Marek Niedziela (ORCID: https://orcid.org/0000-0001-8862-6937)
- Isabel Esteva (ORCID: https://orcid.org/0000-0001-6144-3057)
- Verónica Mericq (ORCID: https://orcid.org/0000-0003-2287-0181)
- María Caimari
- Zehra Yavaş Abalı (ORCID: https://orcid.org/0000-0002-8971-6181)
- Sumudu Nimali Seneviratne
- Hedi L. Claahsen‐van der Grinten (ORCID: https://orcid.org/0000-0003-0181-0403)
- Anna Nordenström (ORCID: https://orcid.org/0000-0003-0405-3401)
- Helena Fabbri‐Scallet (ORCID: https://orcid.org/0000-0002-2738-1814)
- Tara Schafer-Kalkhoff (ORCID: https://orcid.org/0000-0002-3203-7559)
- Burçe Orman (ORCID: https://orcid.org/0000-0002-2737-7815)
- Jillian Bryce
- B. García Cuartero
- Nina Lenhnerr-Taube
- Maria Sredkova-Ruskova
- Ines M. Costa (ORCID: https://orcid.org/0000-0002-5177-073X)
- Martine Cools (ORCID: https://orcid.org/0000-0002-9552-4899)
- Leyla Akın (ORCID: https://orcid.org/0000-0003-4002-3090)
- Francisca Moreno
- Fatma Darendeliler
- Amaia Vela
- Maricruz Almaraz
- Christa E. Flück
- Mónica Tomé
- Laura Audí
- Jana Malíková
- Rawda Naamneh-Elzenaty
Institutions
- University of Bern (CH)
- University Hospital of Bern (CH)
- Instituto de Salud Carlos III (ES)
- BioCruces Health research Institute (ES)
- Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Institute of Social and Preventive Medicine (CH)
- Hospital de Cruces (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
Publication Details
- Journal
- EBioMedicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1016/j.ebiom.2025.105624
- Citations
- 4
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 7.27
Funders
- National Science Foundation
- University of Bern
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Eusko Jaurlaritza