O17: Exploring MED27 gene pathogenicity in a neurodevelopmental disorder with cerebellar atrophy by Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Nuo Chen, Linyan Meng, Yong Lei, Shen Gu

Get full text

O60: AFF2 gene variants identified through carrier screening for Fragile XE syndrome by Lisa Johnson, Lauren Tuttle, Emily Becraft, Ashley Cantu-Weinstein, Yang Wang, Katharina Schulze, Linyan Meng, Vivienne Souter

Get full text

P731: Clinical significance of mRNA nonstop decay in rare disease diagnosis by Yue Zhou, Christian Taborda, Dandan He, Nikita Mehta, Yingjun Jiang, Liesbeth Vossaert, John Lattier, Linyan Meng, Xi Luo

Get full text

P645: Reflex RNA sequencing for enhanced variant classification on ES/GS improves patient outcomes by Mei Ling Chong, Robert Rigobello, Sydney Lau, Wilson CW. Wu, Hongzheng Dai, Linyan Meng, Fan Xia, Christine Eng, Xiaonan Zhao

Get full text

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis by Elizabeth Gorman, Hongzheng Dai, Hongzheng Dai, Yanming Feng, William James Craigen, William James Craigen, David C. Y. Chen, Fan Xia, Fan Xia, Linyan Meng, Linyan Meng, Pengfei Liu, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M. Eng, Christine M. Eng, Yue Wang, Yue Wang

Get full text

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing by Youbao Sha, J. Bryce Ortiz, Sara L. Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C. ElNaggar, Wenbo Xu

Get full text