Highly tissue specific expression of Sphinx supports its male courtship related role in Drosophila melanogaster. by Ying Chen, Hongzheng Dai, Sidi Chen, Luoying Zhang, Manyuan Long

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P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease by Katharina Schulze, Matthew Hoi Kin Chau, Hongzheng Dai, Elizabeth Mizerik, Keren Machol, Nichole Owen

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P170: Rapid genome provides unexpected, highly actionable answer for critically ill patient by Gabrielle Geddes, Brett Graham, Riad Lutfi, Sarah Ackah, Hongzheng Dai, Gregory Montgomery, Kyle Jackson

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P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome by Liesbeth Vossaert, Nichole Owen, Hongzheng Dai, Eric Kao, Xiaonan Zhao, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Elizabeth Mizerik

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P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure by Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Yishay Ben-Moshe, Seema Lalani, Daryl Scott, Fernando Scaglia, Keren Machol, Mir Reza Bekheirnia

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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

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OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation by Ken Saida, Tokiko Fukuda, Daryl A. Scott, Daryl A. Scott, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Haley Streff, Pengfei Liu, Pengfei Liu, Hongzheng Dai, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto

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KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine by Peter Müller, Danielle S. Takacs, Ulrike B. S. Hedrich, Rohini Coorg, Laura Masters, Kevin E. Glinton, Hongzheng Dai, Jon A. Cokley, James J. Riviello, Holger Lerche, Edward C. Cooper

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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients by Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie Sophie Leduc, Linyan Meng, Fan Xia, Christine M. Eng, Yaping Yang, Bo Yuan, Hongzheng Dai

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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

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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

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P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform by Dan Brooks, Blake Vuocolo, Roberta Sierra, Christopher Holder, Lauren Urbanski, Lori Berry, Segundo Lizardo-Guzman, Ana Hernandez, Jose Gamez Godoy, Surya Mulukutla, Hongzheng Dai, Brendan Lee, Claudia Soler-Alfonso, Kent Carter, Seema Lalani

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Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes by Seyoung Yu, Yo Jun Choi, John Hoon Rim, Hye-Youn Kim, Nasim Bekheirnia, Sarah Jane Swartz, Hongzheng Dai, Shen Linda Gu, Soyeon Lee, Ryuichi Nishinakamura, Friedhelm Hildebrandt, Mir Reza Bekheirnia, Mir Reza Bekheirnia, Heon Yung Gee

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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

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Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients by Jia Tang, Jia Tang, Jia Tang, Jia Tang, Meihua Tan, Meihua Tan, Yihui Deng, Hui Tang, Haihong Shi, Mingzhen Li, Wei Ma, Jia Li, Hongzheng Dai, Jianli Li, Shengmei Zhou, Xu Li, Fengxiang Wei, Xiaofen Ma, Liangping Luo

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P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform by Blake Vuocolo, Roberta Sierra, Dan Brooks, Kent Carter, Keila Rodriguez, Lori Berry, Ana Hernandez, Christopher Holder, Lauren Urbanski, Jose Gamez Godoy, Surya Mulukutla, Segundo Lizardo-Guzman, Humberto Hidalgo, Alberto Allegre, Sandy Magallan, Sarah Rodriguez, Claudia Soler-Alfonso, Hongzheng Dai, Brendan Lee, Seema Lalani

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder by Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases by Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. by Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee

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