Search Results - Christine Eng
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In-person versus virtual musculoskeletal ultrasound education during the coronavirus disease 2019 pandemic: A single-center study by Ya-Ting Chen, Raymond Chou, Minna J Kohler, Christine Eng, Joanne Borg-Stein
Published in The Journal of the International Society of Physical and Rehabilitation Medicine (2022-01-01)Get full text
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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
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders by Amir Hossein Saeidian, Liesbeth Vossaert, Elizabeth Mizerik, Wilson CW. Wu, Hongzheng Dai, Nichole Owen, Janice Smith, Linyan Meng, Christine Eng, Fan Xia, Weimin Bi, Xiaonan Zhao
Published in Genetics in Medicine Open (2024-01-01)Get full text
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4
P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders by Kristina Macakova, Jefferson Sinson, Sen Zhao, Hongzheng Dai, Jill Rosenfeld, Gladys Zapata, Shenglan Li, Patricia Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Disease Network, Brendan Lee, Christine Eng, Pengfei Liu
Published in Genetics in Medicine Open (2024-01-01)Get full text
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5
P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases by Jun Yang, Tiansheng Chen, Eric Kao, Jie Dong, John Lattier, Hongzheng Dai, Linyan Meng, Fan Xia, Eric Schmitt, Sandra Peacock, William Craigen, Robert Rigobello, Lee-Jun Wong, Christine Eng, Yue Wang
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Characterization of the renal phenotype in RMND1‐related mitochondrial disease by Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Published in Molecular Genetics & Genomic Medicine (2019-12-01)Get full text
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits by Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski, Pengfei Liu
Published in Genome Medicine (2022-09-01)Get full text
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P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases by Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler
Published in Genetics in Medicine Open (2024-01-01)Get full text
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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. by Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann
Published in PLoS Genetics (2016-04-01)Get full text
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