Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Mianne, Lee"'
Autor:
Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33
Externí odkaz:
https://doaj.org/article/ac8c484edeef4b69839a418b96ebad40
Autor:
Sit Yee Kwok, Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih, Mianne Lee, Christopher C. Y. Mak, Martin Chui, Sabrina Tsao, Brian Hon Yin Chung
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at
Externí odkaz:
https://doaj.org/article/0ea45a1e97ed4009b1e09e81530f9309
Autor:
Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui, Jeffrey F. T. Chau, Christopher C. Y. Mak, Sandy L. K. Au, Hei Man Lo, Kelvin Y. K. Chan, Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance. However, the use of amniotic fluid (AF) cells for RNA-seq has not yet been explored. He
Externí odkaz:
https://doaj.org/article/0ab33a9da48e45f390b24d43dc3b0085
Autor:
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Xuehan Zhuang, Ryan Lee, Jasmine Lee Fong Fung, Mianne Lee, Christopher Chun Yu Mak, Nicole Ying Ting Ng, Claudia Ching Yan Chung, Marcus Chun Yin Chan, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Kelvin Yuen Kwong Chan, Anita Sik Yau Kan, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Kit San Yeung, Brian Hon Yin Chung, Clara Sze Man Tang
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available,
Externí odkaz:
https://doaj.org/article/a4439854ca474791ac85c6eeb89fbddb
Autor:
Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Christy Shuk-Kuen Chau, Ka Ka Siu, Jacqueline Hung, Kit San Yeung, Anna Ka Yee Kwong, Christopher O'Callaghan, Yu Lung Lau, Chun-Wai Davy Lee, Brian Hon-Yin Chung, So-Lun Lee
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and viral infections and primary immunodeficiencies, other genetic conditions such as cystic fi
Externí odkaz:
https://doaj.org/article/1354567d67c147fb8a3fb1d9e75939ea
Autor:
Wing Chan, Mianne Lee, Zhen Xuan Yeo, Dingge Ying, Keith A. Grimaldi, Craig Pickering, Michael M. S. Yang, Senthil K. Sundaram, Lawrence C. H. Tzang
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-8 (2020)
Abstract Background Understanding the genetic basis of cancer risk is a major international endeavor. The emergence of next-generation sequencing (NGS) in late 2000’s has further accelerated the discovery of many cancer susceptibility genes. The us
Externí odkaz:
https://doaj.org/article/5fbb086b5cdc433cadb931c41fb52625
Autor:
Sophie H.Y. Lai, Jaime S. Rosa Duque, Brian Hon-Yin Chung, Tom Wai-Hin Chung, Daniel Leung, Ronnie Siu-Lun Ho, Raymand Lee, Rosana W.S. Poon, Gilbert T. Chua, Kai-Ning Cheong, Martin Man Chun Chui, Mianne Lee, Sidney Tam, Andrew Ho Cheuk Him, King-Fai Cheng, Wilson Wai-Shing Ho, Kwok-Yung Yuen, Pamela Lee, Yu-Lung Lau
Publikováno v:
International Journal of Infectious Diseases, Vol 107, Iss , Pp 59-61 (2021)
We report this rare case of cerebral phaeohyphomycosis in a previously healthy Chinese boy, who was found to have caspase recruitment domain family member 9 (CARD9) deficiency. Initial radiological features suggested a neoplastic cerebral lesion, whi
Externí odkaz:
https://doaj.org/article/c089714f10e94aff8d8f3ffb50e5706f
Autor:
Mullin Ho Chung Yu, Marcus Chun Yin Chan, Claudia Ching Yan Chung, Andrew Wang Tat Li, Chara Yin Wa Yip, Christopher Chun Yu Mak, Jeffrey Fong Ting Chau, Mianne Lee, Jasmine Lee Fong Fung, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Wilfred Hing Sang Wong, Jing Yang, William Chun Ming Chui, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Clara Sze Man Tang, Kit San Yeung, Brian Hon Yin Chung
Publikováno v:
PLoS Genetics, Vol 17, Iss 2, p e1009323 (2021)
Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in the Chinese population is limited by the lack of population-wide data. In this stu
Externí odkaz:
https://doaj.org/article/17bc0de37ec248a2bc84c547426580ef
Autor:
Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 1, Iss , Pp 100001- (2020)
Background: Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive care unit (ICU). This study sought to examine the diagnostic
Externí odkaz:
https://doaj.org/article/e398ebf6ac4d424a93584d7da343cb7a
Publikováno v:
BMJ Case Reports; Mar2024, Vol. 17 Issue 3, p1-5, 5p