Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Zimeng Ye"'
Autor:
Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. Despite its severity, there is a notable lack of effective methods for predicting and preventi
Externí odkaz:
https://doaj.org/article/08a069339afb4091bfc55ebc7e2c314a
Autor:
Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adu
Externí odkaz:
https://doaj.org/article/3db51aa91e4d4222a42db0a751cb4260
Autor:
Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)
Abstract About 50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as >100 bp from exon–intron junctions, contribute to disease by affecting the splicin
Externí odkaz:
https://doaj.org/article/3103487ddc324b14b1add1c9184bb83f
Publikováno v:
Nano-Micro Letters, Vol 15, Iss 1, Pp 1-42 (2023)
Highlights This review summarized the state of the art of MoS2 from their controllable growth and potential application in integrated circuit. The influence of promoter, substrate, pressure, catalyst and precursor on the nucleation and growth are dis
Externí odkaz:
https://doaj.org/article/738a6c6b3b0f4c8e979230da2496e996
Autor:
Zimeng Ye, Huaichao Luo, Bo Gong, Ying Lin, Ping Shuai, Pu Wang, Changning Ye, Zhenglin Yang, Wanjun Wang, Yi Shi
Publikováno v:
Journal of Ophthalmology, Vol 2015 (2015)
High myopia is one of the leading causes of blindness worldwide. However, the exact etiology of high myopia remains unraveled despite numerous attempts of elucidation. Previous genome-wide association study (GWAS) has revealed that four single nucleo
Externí odkaz:
https://doaj.org/article/d7573e4bfb4f440aa715e90820eed9ef
Autor:
Zimeng Ye, Mark F. Bennett, Andrew Neal, Joshua A. Laing, Martin K. Hunn, Thanomporn Wittayacharoenpong, Marian Todaro, Sheila K. Patel, Melanie Bahlo, Patrick Kwan, Terence J. O'Brien, Ingrid E. Scheffer, Samuel F. Berkovic, Piero Perucca, Michael S. Hildebrand
Publikováno v:
Neurology. 99:1036-1041
Background and ObjectivesMosaic pathogenic variants restricted to the brain are increasingly recognized as a cause of focal epilepsies. We aimed to identify a mosaic pathogenic variant and its anatomical gradient in brain DNA derived from trace tissu
Autor:
Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand
Publikováno v:
Hum Mol Genet
Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The development of novel surgical techniques has permitted the genomic interrogation of hypothalamic hamartoma tissue. This has reveal
Autor:
Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, E. Zeynep Erson-Omay, Stephanie Robert, Emre Kiziltug, Eyiyemisi C. Damisah, Carol Nelson-Williams, Guangya Zhu, Wenna Kong, August Yue Huang, Edward Stronge, H. Westley Phillips, Brian H. Chhouk, Sara Bizzotto, Ming Hui Chen, Thiuni N. Adikari, Zimeng Ye, Tom Witkowski, Dulcie Lai, Nadine Lee, Julie Lokan, Ingrid E. Scheffer, Samuel F. Berkovic, Shozeb Haider, Michael S. Hildebrand, Edward Yang, Murat Gunel, Richard P. Lifton, R Mark Richardson, Ingmar Blümcke, Sanda Alexandrescu, Anita Huttner, Erin L. Heinzen, Jidong Zhu, Annapurna Poduri, Nihal DeLanerolle, Dennis D. Spencer, Eunjung Alice Lee, Christopher A. Walsh, Kristopher T. Kahle
ImportanceMesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy subtype and is often refractory to anti-seizure medications. While most MTLE patients do not have pathogenic germline genetic variants, the contribution of post-zygotic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ecb85c906360f137538ac9a7adb0c28c
https://doi.org/10.1101/2022.12.23.22283854
https://doi.org/10.1101/2022.12.23.22283854
Publikováno v:
Materials Science and Engineering: A. 873:144988
Autor:
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
Publikováno v:
Human mutationREFERENCES. 43(12)
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%-15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contrib