@misc{indiciae30076f78f5ac,
  title = {RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.},
  author = {Dena R Matalon and Angela L Duker and Taylor M Arriaga and Kathryn Russell and Hector Rodrigo Mendez and Devon E Bonner and Margaret E Harley and Moriel Singer-Berk and Monica H Wojcik and Lynn Pais and Stephanie DiTroia and Melanie O'Leary and Thomas Cassini and Kimberly Ezell and Anne D Niehaus and Julie Kaplan and David S Wargowski and Cory J Smid and Emily D Longenecker and Ana Maria Rodriguez Barreto and Danny E Miller and Alexandra C Keefe and Laurel Calderwood and Gregory M Enns and Mustafa Tekin and Stephanie A Bivona and Neeta L Vora and Kelly L Gilmore and Tahir N Khan and Erica E Davis and Amber W Wang and Sameena Khan and Sateesh Maddirevula and Lama Al Abdi and Omar Abuyousef and Hanan E Shamseldin and Salwa Alkhalifi and Firdous Abdulwahab and Mashael Alqahtani and Zainab A Alhumaidi and Seba Nadeef and Amal M Al Hashem and Khadijah Bakur and Eissa A Faqeih and Ebtesam Abdalla and Angus Clarke and Elaine Fletcher and Wee Teik Keng and Lilian Bomme Ousager and Deepthi C de Silva and Muzhirah Haniffa and Francesca Mari and Wayne Lam and Jennifer Campbell and Tessa Homfray and Sheela Nampoothiri and Chumei Li and Bimal P Chaudhari and Kristen Truxal and Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network and Jonathan A Bernstein and Stephen B Montgomery and Matthew T Wheeler and Fowzan S Alkuraya and Anne O'Donnell-Luria and Andrew P Jackson and Ian M Campbell and Vijay S Ganesh and Nic Robertson and Gabrielle Lemire},
  year = {2026},
  doi = {10.1016/j.gim.2026.102633},
  url = {https://pubmed.ncbi.nlm.nih.gov/42322193/},
  note = {Source identifier: 42322193}
}