Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

Genetics in Medicine 2026 Open access

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Authors: Ali Hosseini Bereshneh, Kirkland A. Wilson, Xueyang Pan, Shabab B. Hannan, Megan A. Cooper, Jullianne Diaz, Eyby L. Leon, Tiana M. Moses, Mahshid Sababi Azamian, Daryl A. Scott, Ping Yee Billie Au, Juan Pablo Appendino
+30 more Ingrid E. Scheffer, Antony Kaspi, Melanie Bahlo, Michael S. Hildebrand, Angela T Morgan, Ekanem Ekure, Aleksander Milosavljevic, Denise G. Lanza, Dongxue Mao, Jason D. Heaney, Jeffrey Rogers, Jennifer E. Posey, Jill A. Rosenfeld, Lindsay C. Burrage, Matthew Roth, Ramin Zahedi Darshoori, S Nagamani, Seon-Young Kim, Uma Ramamurthy, Vivek Ramanathan, Z. Liu, Joshua M. Shulman, Friedhelm Hildebrandt, Jennifer E. Posey, Paul Stephen Kruszka, Eric Vilain, Shinya Yamamoto, Oguz Kanca, Seth Berger, Hugo J. Bellen
DOI: 10.1016/j.gim.2026.101685
Cited by: 1
References: 56

Fields of Study & Subjects

Genomics and Rare Diseases Hereditary Neurological Disorders RNA and protein synthesis mechanisms

Publication details

Journal / source
Genetics in Medicine
Publisher
Elsevier BV
Volume
28
Issue
4
Pages
101685–101685
Publication date
17 January 2026
Language
EN