Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Linyan Meng"'
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Autor:
Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/9bb3ad6b45f84c10a06a89c6cbf0b68e
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101011- (2024)
Externí odkaz:
https://doaj.org/article/0db54847450e4020980c6399fc551ad3
Autor:
Vivienne Souter, Erin Armentti, Madeleine Armer-Cabral, Emily Becraft, Jennifer Saucier, Elizabeth Repass, Linyan Meng, Peter Benn, Yang Wang
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101585- (2024)
Externí odkaz:
https://doaj.org/article/687d2881e0fb4e21a4248686b18a4ba5
Autor:
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
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101586- (2024)
Externí odkaz:
https://doaj.org/article/fb7cc4c66cfe4993b4c50d1d4c9a4fb9
Autor:
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
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101626- (2024)
Externí odkaz:
https://doaj.org/article/9f260d97b71d49bda863253af3a7ac87
Autor:
Dandan He, Yingjun Jiang, Yuandong Peng, Yaran Wen, Jun Yang, Ying Zhou, John Lattier, Linyan Meng, Xi Luo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101634- (2024)
Externí odkaz:
https://doaj.org/article/3624422af64c41049ae464e537ca5ea2
Autor:
Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)
Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these
Externí odkaz:
https://doaj.org/article/6905d648dde247ee8ce993083466d75f
Autor:
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M. Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L. Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E. McCandless, Chantal F. Morel, G. Bradley Schaefer, Elizabeth M. Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A. Scott, James R. Lupski, Christine M. Eng, Nan Wu, Bo Yuan
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic canc
Externí odkaz:
https://doaj.org/article/29cca276969242bdad121202e7d7f164
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. UPD may result in clinical phenotypes when occurring on chromosomes with specific imprinting pattern, when leading to homozygosity of
Externí odkaz:
https://doaj.org/article/33740cb3ed954d878e2eff95e6e8e6b0
Autor:
Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-11 (2019)
Abstract Background Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged
Externí odkaz:
https://doaj.org/article/86ee908a71bb4a7ab56d4cd217c72cb4