Upfront whole genome and transcriptome sequencing to improve diagnosis in inherited bone marrow failure syndromes.

Lucy C Fox, William S Stevenson, Erin Goode, Nicole Rachel den Elzen, Vahid Pazhakh, Kelsey Man, Francis Baumgartner, Lin Sawan Cheng, Stephanie Best, Zoe Fehlberg, Ella R Thompson, Ing-Soo Tiong, Laura Barth, Simon Wu, Michelle Tan, Caroline Wong, Mathilda Wilding, Graham J Lieschke, Matthew R Emerson, Scott B Cohen, Tracy M Bryan, Cas Simons, Daniel Geoffrey MacArthur, Satwica Yerneni, Noel Djitro, David Ritchie, Anna L Brown, Meg Wall, Paul A James, Zornitza Stark, Erica Wood, Piers Blombery

DOI: 10.1182/blood.2026035448

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