Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Matthew Hoi Kin Chau"'
Autor:
Emily Waskow, Elizabeth Mizerik, Nichole Owen, Matthew Hoi Kin Chau, Rachel Franciskovich, Kevin Glinton, Keren Machol
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101275- (2024)
Externí odkaz:
https://doaj.org/article/041eafb9fda04afb925eb309f22aa7a6
Autor:
Matthew Hoi Kin Chau, Stephanie Anderson, Rodger Song, Lance Cooper, Patricia Ward, Bo Yuan, Pawel Stankiewicz, Sau Cheung, Liesbeth Vossaert, Yue Wang, Nichole Owen, Janice Smith, Carlos Bacino, Katharina Schulze, Weimin Bi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101499- (2024)
Externí odkaz:
https://doaj.org/article/bce850404ed549388279422f52c170fd
Autor:
Katharina Schulze, Matthew Hoi Kin Chau, Hongzheng Dai, Elizabeth Mizerik, Keren Machol, Nichole Owen
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101573- (2024)
Externí odkaz:
https://doaj.org/article/2d3525edf547400ab967af67e292d201
Autor:
Anne Giersch, Sami Amr, Kevin Booth, Matthew Hoi Kin Chau, Yvonne Chekaluk, Richard Choy, Michael Cohen, Elvis Dong, Jennifer Hochschild, Margaret Kenna, Lauren McGrath, Caroline Mitchell, Julia Perry, Aiden Shearer, Jun Shen, Matthew Stenerson, Cynthia Morton
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100203- (2023)
Externí odkaz:
https://doaj.org/article/94fd3d2457a6493da9eb756120a782ce
Autor:
Matthew Hoi Kin Chau, Elizabeth Mizerik, Laurie Robak, Pengfei Liu, Liesbeth Vossaert, Nichole Owen
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100486- (2023)
Externí odkaz:
https://doaj.org/article/00ebdd4e7fba4d8da970474000babebf
Autor:
Matthew Hoi Kin Chau, Ying Li, Peng Dai, Mengmeng Shi, Xiaofan Zhu, Jacqueline Pui Wah Chung, Yvonne K Kwok, Kwong Wai Choy, Xiangdong Kong, Zirui Dong
Publikováno v:
Asian Journal of Andrology, Vol 24, Iss 3, Pp 248-254 (2022)
Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are still largely
Externí odkaz:
https://doaj.org/article/cbae1472db51402ca125d6b0b2926d95
Autor:
Keying Li, Yilin Zhao, Matthew Hoi Kin Chau, Ye Cao, Tak Yeung Leung, Yvonne K. Kwok, Kwong Wai Choy, Zirui Dong
Publikováno v:
Genes, Vol 14, Iss 7, p 1357 (2023)
Submission of a non-biological parent together with a proband for genetic diagnosis would cause a misattributed parentage (MP), possibly leading to misinterpretation of the pathogenicity of genomic variants. Therefore, a rapid and cost-effective pate
Externí odkaz:
https://doaj.org/article/47cbdf89c8444d818943adcbbe0c62fc
Autor:
Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inver
Externí odkaz:
https://doaj.org/article/d442877cef694c318e8f2e16eaba1c2f
Autor:
Matthew Hoi Kin Chau, Jicheng Qian, Zihan Chen, Ying Li, Yu Zheng, Wing Ting Tse, Yvonne K. Kwok, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Low-pass genome sequencing (GS) detects clinically significant copy number variants (CNVs) in prenatal diagnosis. However, detection at improved resolutions leads to an increase in the number of CNVs identified, increasing the difficulty
Externí odkaz:
https://doaj.org/article/2262b2c5960d49e1a915244e25dbe55c
Autor:
Calli O. Mitchell, Greysha Rivera-Cruz, Matthew Hoi Kin Chau, Zirui Dong, Kwong Wai Choy, Jun Shen, Sami Amr, Anne B. S. Giersch, Cynthia C. Morton
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 36 (2022)
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the int
Externí odkaz:
https://doaj.org/article/507ffb223c5746caba03c4aec6ea2a0c