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Author Details

Pui-Yan Kwok
Cardiovascular Research Institute, University of California San Francisco
1987
286
73
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37293051Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.medRxiv2023
37626063Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing.Nat Commun2023
37872195Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
37291107South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.Nat Commun2023
37346931Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.Neurol Genet2023
37236975Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
37165454High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome Med2023
34521297Re: Vusirikala A et al. A comparison of hand function in Colles' and scaphoid casts using a modified Jebsen Hand Function Test. J Hand Surg Eur. 2022, 47: 186-91.J Hand Surg Eur Vol2022
35460704Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.J Lipid Res2022
33065013Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.Curr Biol2021
33574314Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.NPJ Genom Med2021
33764456Genomic Variation and Recent Population Histories of Spotted (Strix occidentalis) and Barred (Strix varia) Owls.Genome Biol Evol2021
33674754Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.Mol Psychiatry2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
33724415Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics2021
34556655Application of full-genome analysis to diagnose rare monogenic disorders.NPJ Genom Med2021
34642307Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.NPJ Genom Med2021
34016946Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population.Transl Psychiatry2021
34115827Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity.Blood2021
33293427A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility.Cancer Res2021
32436959Analysis of putative cis-regulatory elements regulating blood pressure variation.Hum Mol Genet2020
31754017The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.Genetics2020
31986135Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.PLoS Genet2020
33283855Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.Gigascience2020
33127893Towards a reference genome that captures global genetic diversity.Nat Commun2020
32802992Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.Int J Neonatal Screen2020
32652807De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.Hum Mutat2020
32953574A 5-year analysis of endothelial <i>vs</i> penetrating keratoplasty graft survival in Chinese patients.Int J Ophthalmol2020
32778825The role of exome sequencing in newborn screening for inborn errors of metabolism.Nat Med2020
30367910Integrative approach identifies corticosteroid response variant in diverse populations with asthma.J Allergy Clin Immunol2019
29922976Novel grid and sectoral analyses in monitoring corneal scars.Int Ophthalmol2019
31617323Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.Mol Genet Genomic Med2019
31416423Evaluating the quality of the 1000 genomes project data.BMC Genomics2019
31358948Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards.Nat Ecol Evol2019
31289833OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps.Gigascience2019
31481461The 22q11 low copy repeats are characterized by unprecedented size and structural variability.Genome Res2019
31619542Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.Sci Transl Med2019
30833565Genome maps across 26 human populations reveal population-specific patterns of structural variation.Nat Commun2019
30657954Targeted Genomic Profiling of Acral Melanoma.J Natl Cancer Inst2019
27306329Clinical features, diagnosis and treatment outcomes of cytomegalovirus endotheliitis in Hong Kong.Acta Ophthalmol2018
30193136The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.Am J Hum Genet2018
30072691De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations.Nat Commun2018
30169657A comprehensive evaluation of the genetic architecture of sudden cardiac arrest.Eur Heart J2018
29509491Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.Am J Respir Crit Care Med2018
29507422A large electronic-health-record-based genome-wide study of serum lipids.Nat Genet2018
29367466Mutations in Hnrnpa1 cause congenital heart defects.JCI Insight2018
29067733Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.Hum Mutat2018
27661448Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.Ophthalmic Genet2017
28172448OMBlast: alignment tool for optical mapping using a seed-and-extend approach.Bioinformatics2017
28139693Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.Nat Commun2017
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Collaborators

Ludmila Pawlikowska
Center for Cerebrovascular Research
Co-authored papers 34
Ming Xiao
Drexel University
Co-authored papers 29
Stephanie Hesselson
Victor Chang Cardiac Research Institute
Co-authored papers 18
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Co-authored papers 17
Patricia Taillon-Miller
Washington University School of Medicine
Co-authored papers 15
Catherine Schaefer
Co-authored papers 13
Esteban G Burchard
University of California San Francisco (UCSF)
Co-authored papers 13
Elad Ziv
Institute for Human Genetics, University of California San Francisco (UCSF)
Co-authored papers 11
Raymond D Miller
Washington University
Co-authored papers 11
Bruce M Psaty
Co-authored papers 10
Anthony J Brookes
University of Leicester
Co-authored papers 9
Stephen J Chanock
National Cancer Institute, National Institutes of Health
Co-authored papers 9
Stephen K Van Den Eeden
Kaiser Permanente Northern California, University of California san francisco
Co-authored papers 8
Carlos Iribarren
Co-authored papers 8
David S Siscovick
Co-authored papers 8
Wen-Chi Hsueh
Co-authored papers 8
Tamara B Harris
National Institute on Aging
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Eric Jorgenson
Co-authored papers 8
Kathleen M Giacomini
University of California San Francisco
Co-authored papers 7
Alex R Hastie
Co-authored papers 7
Doug Stryke
University of California San Francisco
Co-authored papers 7
Thomas E Ferrin
Department of Pharmaceutical Chemistry, University of California San Francisco
Co-authored papers 7
Alexander P Reiner
Co-authored papers 7
Sook Wah Yee
University of California San Francisco
Co-authored papers 7
Gon??alo R Abecasis
Regeneron Pharmaceuticals Inc.
Co-authored papers 7
Richard A Castro
University of California san francisco
Co-authored papers 7
Susan J Johns
Center for Visualization, Washington State University
Co-authored papers 7
Thomas Lumley
Co-authored papers 6
Barbara McKnight
Co-authored papers 6
Deborah A Nickerson
University of Washington
Co-authored papers 6
Release 1.2