Sau W Cheung
Baylor College of Medicine
H-index: 78
North America-United States
Top articles of Sau W Cheung
Title | Journal | Author(s) | Publication Date |
---|---|---|---|
P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis | Genetics in Medicine Open | Matthew Hoi Kin Chau Stephanie Anderson Rodger Song Lance Cooper Patricia Ward | 2024/1/1 |
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8; 21 translocation with interstitial telomeric sequences | Journal of medical genetics | Weimin Bi Bo Yuan Pengfei Liu Jaclyn B Murry Xiang Qin | 2023/6/1 |
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis | Genetics in Medicine | Nichole Owen Volkan Okur Stephanie Anderson Janice Smith Carlos Bacino | 2022/3/1 |
Whole-genome sequencing of genetically undiagnosed euploid fetuses with increased nuchal translucency: abridged secondary | HONG KONG MEDICAL JOURNAL | RKW Choy YE Cao FM Lo SW Cheung Y Yang | 2022/2/1 |
Noninvasive prenatal screening for fetal sex chromosome aneuploidies | Cechuan Deng Sau Wai Cheung Hongqian Liu | 2021/4/3 | |
First case report of maternal mosaic tetrasomy 9p incidentally detected on non-invasive prenatal testing | Genes | Wendy Shu Shirley SW Cheng Shuwen Xue Lin Wai Chan Sung Inda Soong | 2021/3/5 |
Deciphering the complexity of simple chromosomal insertions by genome sequencing | Human genetics | Zirui Dong Matthew Hoi Kin Chau Yanyan Zhang Peng Dai Xiaofan Zhu | 2021/2 |
Parental somatic mosaicism for CNV deletions–A need for more sensitive and precise detection methods in clinical diagnostics settings | Genomics | Qian Liu Justyna A Karolak Christopher M Grochowski Theresa A Wilson Jill A Rosenfeld | 2020/9/1 |
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis | Genetics in Medicine | Huilin Wang Zirui Dong Rui Zhang Matthew Hoi Kin Chau Zhenjun Yang | 2020/3/1 |
EHMT1 pathogenic variants and 9q34. 3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome | Journal of Translational Genetics and Genomics | Sarah J Goodman Cheryl Cytrynbaum Brian Hon-Yin Chung Eric Chater-Diehl Celine Aziz | 2020 |
Inside Back Cover, Volume 41, Issue 1 | Human Mutation | Hadia Hijazi Fernanda S Coelho Claudia Gonzaga‐Jauregui Laura Bernardini Soe S Mar | 2020/1 |
Cytogenetically visible inversions are formed by multiple molecular mechanisms | Human Mutation | Maria Pettersson Christopher M Grochowski Josephine Wincent Jesper Eisfeldt Amy M Breman | 2020/11 |
Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome | Human mutation | Hadia Hijazi Fernanda S Coelho Claudia Gonzaga‐Jauregui Laura Bernardini Soe S Mar | 2020/1 |
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels | Genetics in Medicine | Bo Yuan Lei Wang Pengfei Liu Chad Shaw Hongzheng Dai | 2020/10 |