Pui–Yan Kwok

University of California, San Francisco — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

88h-index41.3kcitations490works8.12yr avg
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Research Topics

Genetic Associations and Epidemiology(67), Genomics and Rare Diseases(50), Genomic variations and chromosomal abnormalities(48), RNA and protein synthesis mechanisms(45), Cancer Genomics and Diagnostics(38)

Publications479 total

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies
Nature·2025· 8 citedOpen Access
Identification of De Novo Chromosomal Translocations Disrupting <scp><i>NIPBL</i></scp> in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis
Molecular Genetics & Genomic Medicine·2025· 3 citedOpen Access
Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia
Frontiers in Genetics·2025· 3 citedOpen Access
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Science·2025· 29 citedOpen Access
Polygenic height prediction for the Han Chinese in Taiwan
npj Genomic Medicine·2025· 1 citedOpen Access
Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort
2024Open Access
Deleterious Variants Contribute Minimal Excess Risk in Large-Scale Testing
2024Open Access
The Taiwan Precision Medicine Initiative: A Cohort for Large-Scale Studies
2024· 5 citedOpen Access
A de novo int22h‐1/int22h‐2‐flanked Xq28 deletion‐associated preferential X‐inactivation in a female with severe hemophilia B
Pediatric Blood & Cancer·2024Open Access
Highly efficient capture approach for the identification of diverse inherited retinal disorders
npj Genomic Medicine·2024· 8 citedOpen Access
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
npj Genomic Medicine·2024· 15 citedOpen Access
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
npj Genomic Medicine·2023· 1 citedOpen Access
Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing
Nature Communications·2023· 24 citedOpen Access
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
UNC Libraries·2023Open Access
A Novel Genome Optimization Tool for Chromosome-Level Assembly across Diverse Sequencing Techniques
2023· 2 citedOpen Access
Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
Neurology Genetics·2023· 4 citedOpen Access
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity
Nature Communications·2023· 37 citedOpen Access
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
npj Genomic Medicine·2023· 40 citedOpen Access
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry
2023Open Access
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing
Genome Medicine·2023· 8 citedOpen Access
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Frequent Co-authors

Neil Risch(14), Mark Kvale(9), Alex Hastie(8), Han Cao(8), Ming Xiao(7), Ernest T. Lam(7), Stephanie Hesselson(7), Catherine Schaefer(7), Gábor Marth(6), Thomas J. Hoffmann(6), Carlos Iribarren(6), Wilson Liao(5), Dilrini K. Ranatunga(5), Elad Ziv(5), Cynthia Helms(4), A. Bowcock(4), Mark Chaisson(4), David Porubský(4), Tobias Rausch(4), Peter A. Audano(4)