Genetics in Medicine · Published 2026-06-01 · DOI 10.1016/j.gim.2026.102633
Dena R. Matalon, Angela L. Duker, Taylor M. Arriaga, Kathryn Russell, Hector Rodrigo Mendez, Devon E. Bonner, Margaret E. Harley, Moriel Singer-Berk, Monica H. Wojcik, Lynn Pais, Stephanie DiTroia, Melanie O’Leary, Thomas Cassini, Kimberly Ezell, Anne D. Niehaus, Julie Kaplan, David S. Wargowski, Cory J. Smid, Emily D. Longenecker, Ana Maria Rodriguez Barreto, Danny E. Miller, Alexandra C. Keefe, Laurel Calderwood, Gregory M. Enns, Mustafa Tekin, Stephanie A. Bivona, Neeta L. Vora, Kelly L. Gilmore, Tahir N. Khan, Erica E. Davis, Amber W. Wang, Sameena Khan, Sateesh Maddirevula, Lama Al Abdi, Omar Abuyousef, Hanan E. Shamseldin, Salwa Alkhalifi, Firdous Abdulwahab, Mashael Alqahtani, Zainab A. Alhumaidi, Seba Nadeef, Amal M. Al Hashem, Khadijah Bakur, Eissa A. Faqeih, Ebtesam Abdalla, Angus Clarke, Elaine Fletcher, Wee Teik Keng, Lilian Bomme Ousager, Deepthi C. de Silva, Muzhirah Haniffa, Francesca Mari, Wayne Lam, Jennifer Campbell, Tessa Homfray, Sheela Nampoothiri, Chumei Li, Bimal P. Chaudhari, Kristen Truxal, Jonathan A. Bernstein, Stephen B. Montgomery, Matthew T. Wheeler, Fowzan S. Alkuraya, Anne O’Donnell-Luria, Andrew P. Jackson, Ian M. Campbell, Vijay S. Ganesh, Nic Robertson, Gabrielle Lemire
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Matalon, D., Duker, A., Arriaga, T., et al. (2026). RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort. Genetics in Medicine. https://doi.org/10.1016/j.gim.2026.102633