Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jacob Shujui Hsu"'
Autor:
Sheng-Kai Lai, Allen Chilun Luo, I-Hsuan Chiu, Hui-Wen Chuang, Ting-Hsuan Chou, Tsung-Kai Hung, Jacob Shujui Hsu, Chien-Yu Chen, Wei-Shiung Yang, Ya-Chien Yang, Pei-Lung Chen
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 1562-1571 (2024)
Human leukocyte antigen (HLA) genes play pivotal roles in numerous immunological applications. Given the immense number of polymorphisms, achieving accurate high-throughput HLA typing remains challenging. This study aimed to harness the human pan-gen
Externí odkaz:
https://doaj.org/article/08955c6a50a74592a2f382097a0b670e
Autor:
Chen‐Yu Lee, Ming‐Yu Lo, You‐Mei Chen, Pei‐Hsuan Lin, Chuan‐Jen Hsu, Pei‐Lung Chen, Chen‐Chi Wu, Jacob Shujui Hsu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical fea
Externí odkaz:
https://doaj.org/article/1255c718f0884db3b687d73a8c3fbf50
Autor:
Mao-Jan Lin, Yu-Chun Lin, Nae-Chyun Chen, Allen Chilun Luo, Sheng-Kai Lai, Chia-Lang Hsu, Jacob Shujui Hsu, Chien-Yu Chen, Wei-Shiung Yang, Pei-Lung Chen
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Adaptive immune receptor repertoire (AIRR) is encoded by T cell receptor (TR) and immunoglobulin (IG) genes. Profiling these germline genes encoding AIRR (abbreviated as gAIRR) is important in understanding adaptive immune responses but is challengin
Externí odkaz:
https://doaj.org/article/d48b3489bae0486c8717607cf78ea279
Autor:
Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100029- (2021)
Summary: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cos
Externí odkaz:
https://doaj.org/article/8843ca96b8394774b7bfa2e49aa0584a
Autor:
Wai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, Haibing Yue, Jacob Shujui Hsu, Patrick Ho-Yu Chung, John M. Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Hoa Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O'Callaghan, Maria-Mercè Garcia-Barceló, So-Lun Lee, Pak-Chung Sham, Vincent Chi-Hang Lui, Paul Kwong-Hang Tam
Publikováno v:
EBioMedicine, Vol 71, Iss , Pp 103530- (2021)
Background: Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (comm
Externí odkaz:
https://doaj.org/article/de3d870458914c54bce3e247eeaeb86d
Autor:
Pei-Hsuan Lin, Hung-Pin Wu, Che-Ming Wu, Yu-Ting Chiang, Jacob Shujui Hsu, Cheng-Yu Tsai, Han Wang, Li-Hui Tseng, Pey-Yu Chen, Ting-Hua Yang, Chuan-Jen Hsu, Pei-Lung Chen, Chen-Chi Wu, Tien-Chen Liu
Publikováno v:
Biomedicines, Vol 10, Iss 7, p 1523 (2022)
With diverse etiologies and clinical features, the management of pediatric auditory neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear implants (CIs) are variable. This study aimed to investigate CI outcomes in ped
Externí odkaz:
https://doaj.org/article/845f30e030954bc1afb60ad40507d29c
Autor:
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
Publikováno v:
Translational Neurodegeneration, Vol 6, Iss 1, Pp 1-11 (2017)
Abstract The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even among
Externí odkaz:
https://doaj.org/article/b3d43f28d09044c598ac8af8ada40da3
Autor:
Jacob Shujui Hsu, Ruizhong Zhang, Fanny Yeung, Clara S.M. Tang, John K.L. Wong, Man-Ting So, Huimin Xia, Pak Sham, Paul K. Tam, Miaoxin Li, Kenneth K.Y. Wong, Maria-Mercè Garcia-Barcelo
Publikováno v:
ERJ Open Research, Vol 5, Iss 1 (2019)
Background Newborns affected with congenital pulmonary airway malformations (CPAMs) may present with severe respiratory distress or remain asymptomatic. While surgical resection is the definitive treatment for symptomatic CPAMs, prophylactic elective
Externí odkaz:
https://doaj.org/article/7359369c39994714a4fb5c8d0a99fa44
Autor:
Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi Wu
Publikováno v:
Otolaryngology–Head and Neck Surgery.
ObjectiveUnilateral sensorineural hearing loss is a condition commonly encountered in otolaryngology clinics. However, its molecular pathogenesis remains unclear. This study aimed to investigate the genetic underpinnings of childhood unilateral senso
Detecting somatic mutations from the patients’ tumor tissues has the clinical impacts in medical decision making. Library preparation methods, sequencing platforms, read alignment tools and variant calling algorithms are the major factors to influe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af03d3168973ce746eaa75ec85d21a2e
https://doi.org/10.1101/2022.11.17.516840
https://doi.org/10.1101/2022.11.17.516840