Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

The American Journal of Human Genetics 2026 Open access

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Authors: Jesse M. Levine, Daniel G. Calame, Riccardo Sangermano, Haowei Du, Ahmed Saad, Jasmin Lisfeld, Tatjana Bierhals, Jonas Denecke, Eyyüp Üçtepe, Merve Yoldaş Çelik, Ahmet Yesilyurt, Hilal Yildiz Er
+17 more Elif Yilmaz Gulec, Aziza Mushiba, Naif A. M. Almontashiri, Pawel Gawlinski, Wojciech Wiszniewski, Ender Karaca, Lama Alabdi, Davut Pehlivan, Dana Marafi, Maha S. Zaki, Fowzan S. Alkuraya, Joseph G. Gleeson, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Kinga M. Bujakowska, James R. Lupski
DOI: 10.1016/j.ajhg.2025.12.011
Cited by: 2
References: 62

Fields of Study & Subjects

Fetal and Pediatric Neurological Disorders Genomics and Rare Diseases Congenital heart defects research

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
2
Pages
362–379
Publication date
15 January 2026
Language
EN