Pui-Yan Kwok
University of California, San Francisco
H-index: 94
North America-United States
Top articles of Pui-Yan Kwok
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Highly efficient capture approach for the identification of diverse inherited retinal disorders | NPJ Genomic Medicine | Hsiao-Jung Kao Ting-Yi Lin Feng-Jen Hsieh Jia-Ying Chien Erh-Chan Yeh | 2024/1/9 |
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population | NPJ Genomic Medicine | Yusuph Mavura Nuriye Sahin-Hodoglugil Ugur Hodoglugil Mark Kvale Pierre-Marie Martin | 2024/1/3 |
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … | GENOME BIOLOGY | Shantanu Jain Constantina Bakolitsa E Brenner Steven Predrag Radivojac John Moult | 2024 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods | Null Null Shantanu Jain Constantina Bakolitsa Steven E Brenner Predrag Radivojac | 2024 | |
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population | NPJ Genomic Medicine | Anne Slavotinek Shannon Rego Nuriye Sahin-Hodoglugil Mark Kvale Billie Lianoglou | 2023 |
Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease | Neurology: Genetics | Hsueh Wen Hsueh Hsiao-Jung Kao Chi-Chao Chao Sung-Ju Hsueh Yu-Ning Huang | 2023/6/16 |
O40: Clinical utility of prenatal exome sequencing in a diverse cohort | Genetics in Medicine Open | Mary Norton Billie Lianoglou Matthew Shear Sara Ackerman Nuriye Sahin-Holodlugil | 2023/1/1 |
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity | Nature communications | Jeffrey D Wall J Fah Sathirapongsasuti Ravi Gupta Asif Rasheed Radha Venkatesan | 2023/6/8 |
O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort | Genetics in Medicine Open | Teresa Sparks Billie Lianoglou Nuriye Sahin-Holodlugil Mark Kvale Jessica Van Ziffle | 2023/1/1 |
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population | NPJ genomic medicine | Anne Slavotinek Shannon Rego Nuriye Sahin-Hodoglugil Mark Kvale Billie Lianoglou | 2023/5/26 |
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry | medRxiv | Yusuph Mavura Nuriye Sahin-Hodoglugil Ugur Hodoglugil Mark Kvale Pierre-Marie Martin | 2023/5/24 |
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing | Genome medicine | Feyza Yilmaz Umamaheswaran Gurusamy Trenell J Mosley Pille Hallast Kwondo Kim | 2023/5/10 |
Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing | Nature Communications | Hsiu-Hui Tsai Hsiao-Jung Kao Ming-Wei Kuo Chin-Hsien Lin Chun-Min Chang | 2023/8/25 |
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia | Journal of lipid research | Weilai Dong Karen HY Wong Youbin Liu Michal Levy-Sakin Wei-Chien Hung | 2022/6/1 |
Genomic Variation and Recent Population Histories of Spotted (Strix occidentalis) and Barred (Strix varia) Owls | Genome biology and evolution | Naoko T Fujito Zachary R Hanna Michal Levy-Sakin Rauri CK Bowie Pui-Yan Kwok | 2021/5/1 |
Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity | Blood, The Journal of the American Society of Hematology | Joonhee Park Jay Daniels Tim Wartewig Kimberly G Ringbloom Maria Estela Martinez-Escala | 2021/10/7 |
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders | NPJ Genomic Medicine | Joseph T Shieh Monica Penon-Portmann Karen HY Wong Michal Levy-Sakin Michelle Verghese | 2021 |
A large-scale association study detects novel rare variants, risk genes, functional elements, and polygenic architecture of prostate cancer susceptibility | Cancer research | Nima C Emami Taylor B Cavazos Sara R Rashkin Clinton L Cario Rebecca E Graff | 2021/4/1 |
Application of full-genome analysis to diagnose rare monogenic disorders | NPJ Genomic Medicine | Joseph T Shieh Monica Penon-Portmann Karen HY Wong Michal Levy-Sakin Michelle Verghese | 2021/9/23 |
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese | NPJ genomic medicine | Chun-Yu Wei Jenn-Hwai Yang Erh-Chan Yeh Ming-Fang Tsai Hsiao-Jung Kao | 2021/2/11 |
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