Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Zachry T. Soens"'
Autor:
Jun Wang, Li Zhao, Xia Wang, Yong Chen, Mingchu Xu, Zachry T. Soens, Zhongqi Ge, Peter Ronghan Wang, Fei Wang, Rui Chen
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-20 (2018)
Abstract Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half of all Mendelian diseases remain elusive. One main challenge is the high genetic heterogeneity of Mendelian diseases i
Externí odkaz:
https://doaj.org/article/a797d176757f496fa11a63f4d1f4156e
Autor:
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
Abstract Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating plei
Externí odkaz:
https://doaj.org/article/5fb3890276534bc0b43f0cb5ca6410ac
Autor:
Mingchu Xu, Hui Li, Yumei Li, Peiquan Zhao, Irma Lopez-Solache, Radwan Ajlan, Fabiana Louise Motta, Robert K. Koenekoop, Juliana Maria Ferraz Sallum, Lavan Rajan, Keqing Wang, Shijing Wu, Rui Chen, David G. Birch, Justin Branch, Renata T Simões, Ruifang Sui, Zachry T. Soens, Fernanda Belga Ottoni Porto, Zhisheng Yuan
Publikováno v:
Human Mutation. 38:1521-1533
The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here we evaluated how many
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca222e28c35efbc26650ff588537cc56
https://doi.org/10.1002/humu.23294
https://doi.org/10.1002/humu.23294
Autor:
Zhaoxia Sun, Rui Chen, Zachry T. Soens, Rachayata Dharmat, Li Zhao, Mohammed Naqeeb, Yuanyuan Li, Yumei Li, Irma Lopez, Norma Fajardo, Robert K. Koenekoop, Yiyun Chen, Aiden Eblimit
Publikováno v:
Genetics in Medicine. 18:1044-1051
Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration. Six of the 22 known LCA genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA genes, the genetic basis of ~30% of LCA patients remains unknow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36de1a949d006884a5383fa0c0b11061
https://doi.org/10.1038/gim.2015.205
https://doi.org/10.1038/gim.2015.205
Autor:
Mingchu Xu, Li Zhao, Yong Chen, Zachry T. Soens, Rui Chen, Zhongqi Ge, Fei Wang, Peter Ronghan Wang, Xia Wang, Jun Wang
Publikováno v:
Genome Biology
Genome Biology, Vol 19, Iss 1, Pp 1-20 (2018)
Genome Biology, Vol 19, Iss 1, Pp 1-20 (2018)
Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half of all Mendelian diseases remain elusive. One main challenge is the high genetic heterogeneity of Mendelian diseases in which s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60f3c27dc8a3f584857713ad04891778
https://doi.org/10.1186/s13059-018-1579-x
https://doi.org/10.1186/s13059-018-1579-x
Autor:
Justin Branch, Zachry T. Soens, Evan M Jones, Rui Chen, Isadora F. G. Sena, Fernanda Belga Ottoni Porto, Shirley Aparecida Madureira Sampaio, Igor Mendes Maia, Renata T Simões
Publikováno v:
Genes, Vol 8, Iss 12, p 355 (2017)
Genes
Genes; Volume 8; Issue 12; Pages: 355
Genes
Genes; Volume 8; Issue 12; Pages: 355
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4392718f5c1cbf3685c187a2a8d65d78
https://www.mdpi.com/2073-4425/8/12/355
https://www.mdpi.com/2073-4425/8/12/355
Autor:
Zachry T. Soens, Ruifang Sui, Emmanuel Chang, Mingchu Xu, Huajin Li, Yumei Li, Rui Chen, Lizhu Yang, Shijing Wu, Lee-Jun C. Wong, Zhisheng Yuan, Richard A. Lewis, Baiyu Li
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
Scientific Reports
Scientific Reports
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2112503f094ceab4cfbaffa4b3ea3a2a
https://doi.org/10.1038/s41598-017-07629-3
https://doi.org/10.1038/s41598-017-07629-3
Autor:
Smriti A. Agrawal, Chris F. Inglehearn, Huajin Li, Rachel Gillespie, Nikolas Pontikos, Mingchu Xu, Michel Michaelides, Liliana F. Azevedo, Susan M. Downes, Johannes von Lintig, Gavin Arno, Georgina Hall, Darwin Babino, Carmel Toomes, Rui Chen, Hana Abouzeid, Patrick Nitschké, Yajing Xie, Jeanne Amiel, Li Zhao, Rando Allikmets, Valeria Kheir, Andrew R. Webster, Martin McKibbin, Christopher T. Gordon, Hervé Le Hir, Zachry T. Soens, Forbes Manson, Ruifang Sui, Carmen Ayuso, Laurence Hubert, Graeme C.M. Black, Virginia Busetto, Emma C. Lord, Aiden Eblimit, Christine Bole-Feysot, Daniel F. Schorderet, Gaëtan Pinton, Yumei Li, Simon C Ramsden, Lizhu Yang, Zhisheng Yuan, Nathalie Allaman-Pillet, I. Lorda-Sánchez, James A. Poulter, Vincent Plagnol, Panagiotis Sergouniotis, Zixi Sun, Hui Li, Claude Besmond, Myriam Oufadem, Michael E. Cheetham, Alessia Fiorentino, Rolph Pfundt, Rachayata Dharmat, Rosa Riveiro-Alvarez, Manir Ali, Stephanie Halford, Jing Yu, Linda Bapst-Wicht, Alison J. Hardcastle, Stanislas Lyonnet, Miguel A. Lopez-Martinez, Ihab S. Osman, Peter Stoilov, Andrea H. Németh, Anna Lehman
Publikováno v:
American Journal of Human Genetics, 100, 592-604
American Journal of Human Genetics, 100, 4, pp. 592-604
American Journal of Human Genetics, 100, 4, pp. 592-604
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70d9a145970538bb2658e73e55e27df
https://doi.org/10.1016/j.ajhg.2017.02.008
https://doi.org/10.1016/j.ajhg.2017.02.008
Autor:
Jinlian Wang, Hui Li, Joaquin Villar, Chunying Song, Feras Hantash, Kakit Cheung, Osman Siddiqui, Andrew V. Uzilov, Umadevi Thiumurthi, Andrew Pollock, Dan Li, Marc Y. Fink, Michael R. Rossi, Nefize Sertac Kip, Bharath Jeganathan, Robert Kueffner, Zachry T. Soens, Rong Chen, Michelle Zimmermann, Eric E. Schadt
Publikováno v:
Journal of Clinical Oncology. 37:e13155-e13155
e13155 Background: Next generation sequencing (NGS) technology is transforming the diagnosis and treatment of cancer. However, the massive scale of data has overwhelmed pathologists who need streamlined tools to process this data, automate report gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::848ce29b6a9a23bf233194556351f7c1
https://doi.org/10.1200/jco.2019.37.15_suppl.e13155
https://doi.org/10.1200/jco.2019.37.15_suppl.e13155
Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes
Autor:
Zachry T. Soens, Yiyun Chen, Feng Wang, Amol O. Bajaj, Aiden Eblimit, Li Zhao, Mingchu Xu, Yumei Li, Sung Yun Jung, Zhongqi Ge, Feng He, Theodore G. Wensel, Rui Chen, Jun Qin
Publikováno v:
Genome research. 26(5)
Proteomic profiling on subcellular fractions provides invaluable information regarding both protein abundance and subcellular localization. When integrated with other data sets, it can greatly enhance our ability to predict gene function genome-wide.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::937a33e9b0b78ad719e0a417c23a7ad7
https://pubmed.ncbi.nlm.nih.gov/26912414
https://pubmed.ncbi.nlm.nih.gov/26912414