Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome by Reshma Amin, Theo J Moraes, Amy Skitch, Meredith S Irwin, Stephen Meyn, Manisha Witmans

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P557: Participants’ experiences with and perspectives on genomic research in the University of Wisconsin Undiagnosed Disease Program by Emily Hammad Mrig, April Hall, Kelly Johnson, Emily Warne, Bryn Webb, Stephen Meyn, Yara Al-Rayyan, Rachel Grob

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P194: Advancing diagnostic precision in rare genetic disorders: Insights from the University of Wisconsin Undiagnosed Disease Program by Bryn Webb, Jadin Heilmann, April Hall, Kim Keppler-Noreuil, Derek Pavelec, Xiangqiang Shao, Janet Legare, Robert Steiner, Lisa Arkin, Jane Churpek, Catharine Garland, Hara Levy, Jennifer Kwon, Ryan McAdams, Elizabeth Petty, Carter Ralphe, Kristin Seaborg, Christine Seroogy, Kimberly Stepien, Ingrid Cristian, Patricia Wheeler, Rachel Grob, Qiang Chang, Stephen Meyn

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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing by Huayun Hou, Kyoko E. Yuki, Gregory Costain, Anna Szuto, Sierra Barnes, Arun K. Ramani, Alper Celik, Michael Braga, Meagan Gloven-Brown, Dimitri J. Stavropoulos, Sarah Bowdin, Ronald D. Cohn, Roberto Mendoza-Londono, Stephen W. Scherer, Michael Brudno, Christian R. Marshall, M. Stephen Meyn, Adam Shlien, James J. Dowling, Michael D. Wilson, Lianna Kyriakopoulou

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