Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

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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

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article

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

Şükran Poyrazoğlu, Małgorzata Waśniewska, Zofia Kolesińska, Ieuan A. Hughes et al.
4 citations
EBioMedicine
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
7.27
article

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

Şükran Poyrazoğlu, Małgorzata Waśniewska, Zofia Kolesińska, Ieuan A. Hughes, Evgenia Globa, Murat Aydın, Anna Casteràs, Anna Lauber-Biason, Semra Çeti̇nkaya, Justin H. Davies, Julia Mührer, Ajay Thankamony, Núria Camats, Courtney Finlayson, Jamala Mammadova, Olaf Hiort, Kay‐Sara Sauter, Tülay Güran, Ariadna Campos-Martorell, Alina German, Amaia Rodrı́guez, Emilio García García, Grit Sommer, L. Tack, Meilan Marianne Rutter, Josephine Hirsch, Marco Janner, Sabine E Hannema, Dagmar l’Allemand, David Zangen, Júlio Guerrero, Angela Lucas-Herald, Rieko Tadokoro‐Cuccaro, Isabel Mönig, Jose M. Rial, Chrysanthi Kouri, Saygın Abalı, S. Faisal Ahmed, Kanetee Busiah, Federico Baronio, Idoia Martinez de la Piscina, Luís Castaño, Katherine Lachlan, Antonio Balsamo, Uchenna Kennedy, Н. Б. Зелінська, Gil Guerra‐Júnior, Marek Niedziela, Isabel Esteva, Verónica Mericq, María Caimari, Zehra Yavaş Abalı, Sumudu Nimali Seneviratne, Hedi L. Claahsen‐van der Grinten, Anna Nordenström, Helena Fabbri‐Scallet, Tara Schafer-Kalkhoff, Burçe Orman, Jillian Bryce, B. García Cuartero, Nina Lenhnerr-Taube, Maria Sredkova-Ruskova, Ines M. Costa, Martine Cools, Leyla Akın, Francisca Moreno, Fatma Darendeliler, Amaia Vela, Maricruz Almaraz, Christa E. Flück, Mónica Tomé, Laura Audí, Jana Malíková, Rawda Naamneh-Elzenaty
article en
4 citations

Abstract

No abstract available for this paper.
EBioMedicineVol. 113
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)
National Science Foundation, University of Bern, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Eusko Jaurlaritza
Gender equality
Openalex Percentile: Top 4%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
7.27
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