Suchergebnisse - Devon Bonner

P643: Transcriptome sequencing increases yield of Mendelian disease diagnosis von Devon Bonner, Rachel Ungar, Page Goddard, Jennefer Kohler, Chloe Reuter, Shruti Marwaha, Jonathan Bernstein, Stephen Montgomery, Matthew Wheeler

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P154: Diagnostic value of repeat expansion disorders detected in genome sequencing data* von Jennefer Carter, Sarah Fazal, Devon Bonner, Chloe Reuter, Tanner Jensen, Rachel Ungar, Page Goddard, Jacinda Sampson, Brianna Tucker, Elijah Kravets, Shruti Marwaha, Stephen Montgomery, Stephan Zuchner, Jonathan Bernstein, Matthew Wheeler

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P639: Large-scale genome reanalysis of 159 individuals affected by undiagnosed genetic diseases from the Stanford Center for Undiagnosed Diseases von Hector Mendez, Devon Bonner, Chloe Reuter, Jennefer Kohler, Shruti Marwaha, Laurens van de Wiel, Elijah Kravets, Charlotte Ostrow, Raquel Alvarez, Sara Emami, Meghan Halley, Holly Tabor, Suha Bachir, Jonathan Bernstein, Matthew Wheeler

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O42: Development of an anti-sense oligonucleotide therapeutic targeting RhoBTB2-related epileptic encephalopathy von Matthew Wheeler, Devon Bonner, Raquel Alvarez, Sara Emami, Richard Coca, Brandon Willis, Hector Mendez, Ruchi Patel, Kate Duong, Jennifer Arthur, Ioannis Karakikes, Jonathan Bernstein, Brenda Porter, Juliet Knowles, Kent Lloyd, Thomas LaRocca

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Genetic Diagnosis and Discovery Enabled by Large Language Models von Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz

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