Pui-Yan Kwok

Pui-Yan Kwok

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Pui-Yan Kwok

Pui-Yan Kwok

Publications by authors named "Pui-Yan Kwok"

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100Publications

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De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations.

Nat Commun 2018 Aug 2;9(1):3040. Epub 2018 Aug 2.

Cardiovascular Research Institute, University of California, San Francisco, San Francisco, 94158, CA, USA.

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August 2018

A large electronic-health-record-based genome-wide study of serum lipids.

Nat Genet 2018 Mar 5;50(3):401-413. Epub 2018 Mar 5.

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.

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March 2018

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

Hum Mutat 2018 01 6;39(1):167-171. Epub 2017 Nov 6.

Cardiovascular Research Institute, University of California, San Francisco, California.

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January 2018

Comparative genome analysis of programmed DNA elimination in nematodes.

Genome Res 2017 12 8;27(12):2001-2014. Epub 2017 Nov 8.

Department of Biochemistry and Molecular Genetics, RNA Bioscience Initiative, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.

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December 2017

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Eur J Med Genet 2017 Oct 4;60(10):504-508. Epub 2017 Jul 4.

Division of Medical Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143-2711, USA.

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October 2017

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 () in a female with unilateral anophthalmia and skeletal anomalies.

Am J Ophthalmol Case Rep 2017 Sep 21;7:102-106. Epub 2017 Jun 21.

Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.

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September 2017

OMBlast: alignment tool for optical mapping using a seed-and-extend approach.

Bioinformatics 2017 02;33(3):311-319

College of Life Science, Henan Normal University, Xinxiang, Henan 453007, People's Republic of China

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February 2017

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

Nat Genet 2017 01 14;49(1):54-64. Epub 2016 Nov 14.

Department of Epidemiology and Biostatistics, University of California at San Francisco, San Francisco, California, USA.

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January 2017

Atrial Fibrillation Associated Genetic Variants and Left Atrial Histology: Evaluation for Molecular Sub-Phenotypes.

J Cardiovasc Electrophysiol 2016 Nov 20;27(11):1264-1270. Epub 2016 Sep 20.

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.

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November 2016

In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants.

Epidemiology 2016 09;27(5):656-62

From the aDepartment of Epidemiology, Columbia University, New York, NY; bCardiovascular Health Research Unit, University of Washington, Seattle, WA; cSeattle Children's Research Institute, Seattle, WA; dIDEAS Center, VA Salt Lake City Health Care System, Salt Lake City, UT; eNew York Academy of Medicine, New York, NY; fDepartment of Biostatistics, University of Washington, Seattle, WA; gCardiovascular Research Institute, University of California, San Francisco, CA; and hGarvan Institute of Medical Research, Sydney, Australia.

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September 2016

Cohort Profile: The Jerusalem Perinatal Family Follow-Up Study.

Int J Epidemiol 2016 04 9;45(2):343-52. Epub 2015 Jul 9.

Braun School of Public Health, Hebrew University-Hadassah Medical Center, Jerusalem, Israel,

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April 2016

Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation.

Card Electrophysiol Clin 2016 Mar 16;8(1):217-21. Epub 2016 Jan 16.

Division of Cardiology, Department of Medicine, University of California San Francisco Medical Center, San Francisco, CA, USA.

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March 2016

DLX4 is associated with orofacial clefting and abnormal jaw development.

Hum Mol Genet 2015 Aug 7;24(15):4340-52. Epub 2015 May 7.

Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA,

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August 2015

A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.

Cancer Discov 2015 Aug 1;5(8):878-91. Epub 2015 Jun 1.

Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California. Institute for Human Genetics, University of California, San Francisco, San Francisco, California. Department of Urology, University of California, San Francisco, San Francisco, California. UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California.

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August 2015

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Genetics 2015 Aug 19;200(4):1285-95. Epub 2015 Jun 19.

Institute for Human Genetics, University of California, San Francisco, California 94143-0794 Department of Epidemiology and Biostatistics, University of California, San Francisco, California 94158-2549 Kaiser Permanente Northern California Division of Research, Oakland, California 94612-2304

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August 2015

Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway.

Development 2015 Aug 9;142(16):2775-80. Epub 2015 Jul 9.

Cardiovascular Research Institute, University of California, San Francisco, CA 94143, USA Department of Biochemistry and Biophysics, University of California, San Francisco, CA 94143, USA

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August 2015

The genetics of splicing in neuroblastoma.

Cancer Discov 2015 Apr 30;5(4):380-95. Epub 2015 Jan 30.

Department of Neurology, University of California, San Francisco, San Francisco, California. Department of Neurosurgery, University of California, San Francisco, San Francisco, California. Department of Pediatrics, University of California, San Francisco, San Francisco, California.

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April 2015

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Eur J Hum Genet 2015 Mar 18;23(3):337-41. Epub 2014 Jun 18.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.

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March 2015

Prioritizing genes for X-linked diseases using population exome data.

Hum Mol Genet 2015 Feb 12;24(3):599-608. Epub 2014 Sep 12.

Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA

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February 2015

Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation.

Circ Cardiovasc Genet 2015 Feb 18;8(1):50-7. Epub 2014 Nov 18.

From the Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine (J.D.R., T.A.D., J.E.O., G.M.M.), Cardiovascular Research Institute (A.P., P.-Y.K., R.C.D.), and Department of Medicine, California Institute for Quantitative Biosciences, Institute for Human Genetics (R.C.D.), University of California San Francisco; Division of Cardiovascular Surgery, Sutter Health, Sacramento, CA (J.L.); and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada (M.H.G.).

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February 2015

Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population.

J Gerontol A Biol Sci Med Sci 2014 Dec 20;69(12):1474-84. Epub 2014 Jan 20.

Pacific Health Research and Education Institute, Honolulu, Hawaii. Department of Research, Kuakini Medical Center, Honolulu, Hawaii. Okinawa Research Center for Longevity Science, Urasoe, Okinawa, Japan. Department of Geriatric Medicine, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.

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December 2014

Estimating genotype error rates from high-coverage next-generation sequence data.

Genome Res 2014 Nov 10;24(11):1734-9. Epub 2014 Oct 10.

Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, California 94143, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143, USA; Kaiser Permanente Northern California Division of Research, Oakland, California 94612, USA.

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November 2014

Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma.

Cell Rep 2014 Nov 23;9(3):1034-46. Epub 2014 Oct 23.

Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

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November 2014

A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

PLoS One 2013 3;8(10):e71434. Epub 2013 Oct 3.

Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California San Francisco, San Francisco, California, United States of America.

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June 2014

Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics.

BMC Res Notes 2014 Jun 12;7:360. Epub 2014 Jun 12.

Bioinformatics Research Center, North Carolina State University, 307 Ricks Hall, 1 Lampe Dr, Raleigh, NC 27695 CB7566, USA.

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June 2014

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

BMC Genomics 2014 May 20;15:387. Epub 2014 May 20.

Department of Biochemistry and Molecular Genetics, Human Medical Genetics and Neuroscience Programs, University of Colorado School of Medicine, 12801 E, 17th Avenue, Aurora, CO 80045, USA.

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May 2014

HGV2012: leveraging next-generation technology and large datasets to advance disease research.

Hum Mutat 2013 Apr;34(4):657-60

Institute for Human Genetics and Cardiovascular Research Institute, University of California, San Francisco, CA, USA.

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April 2013

Common variation in fatty acid genes and resuscitation from sudden cardiac arrest.

Circ Cardiovasc Genet 2012 Aug 1;5(4):422-9. Epub 2012 Jun 1.

Department of Medicine, University of Washington CHRU, 1730 Minor Ave, Seattle, WA 98101, USA.

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August 2012

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly.

Nat Biotechnol 2012 Aug;30(8):771-6

Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.

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August 2012

Multicolor super-resolution DNA imaging for genetic analysis.

Nano Lett 2012 Jul 18;12(7):3861-6. Epub 2012 Jun 18.

Center for Biophysics and Computational Biology, University of Illinois at Urbana-Champaign, Urbana, Illinois 61801, United States.

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July 2012

HGV2011: personalized genomic medicine meets the incidentalome.

Hum Mutat 2012 Mar 17;33(3):582-5. Epub 2012 Jan 17.

Department of Statistics, University of California-Berkeley, Berkeley, California, USA.

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March 2012

Mitochondrial DNA sequence variation and risk of pancreatic cancer.

Cancer Res 2012 Feb 15;72(3):686-95. Epub 2011 Dec 15.

Institute for Human Genetics, University of California, San Francisco, California, USA.

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February 2012

Replication and extension of association between common genetic variants in SIM1 and human adiposity.

Obesity (Silver Spring) 2011 Dec 21;19(12):2394-2403. Epub 2011 Apr 21.

Diabetes Center and Department of Medicine, University of California, San Francisco, California, USA.

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December 2011

Association analysis identifies ZNF750 regulatory variants in psoriasis.

BMC Med Genet 2011 Dec 20;12:167. Epub 2011 Dec 20.

Department of Dermatology, University of California, San Francisco, California, USA.

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December 2011

Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.

Cerebrovasc Dis 2011 7;31(4):338-45. Epub 2011 Jan 7.

Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, 94110, USA.

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June 2011

GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

BMC Cardiovasc Disord 2011 Jun 10;11:29. Epub 2011 Jun 10.

Department of Physiological Nursing, Institute for Human Genetics, University of California, San Francisco, 94143, USA.

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June 2011

A genetic risk score combining ten psoriasis risk loci improves disease prediction.

PLoS One 2011 Apr 29;6(4):e19454. Epub 2011 Apr 29.

Department of Dermatology, University of California San Francisco, San Francisco, California, United States of America.

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April 2011

Green technologies for room temperature nucleic acid storage.

Curr Issues Mol Biol 2010 2;12(3):135-42. Epub 2009 Oct 2.

Cardiovascular Research Institute, University of California, San Francisco, 94143, USA.

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November 2010

Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis.

Pharmacogenet Genomics 2010 Oct;20(10):619-29

Department of Medicinal Chemistry, University of Washington, Seattle, Washington 98195-7610, USA.

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October 2010

The DNA damage-binding protein XPC is a frequent target for inactivation in squamous cell carcinomas.

Am J Pathol 2010 Aug 8;177(2):555-62. Epub 2010 Jul 8.

Department of Dermatology, University of California, San Francisco, CA 94143-0808, USA.

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August 2010

Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study.

J Clin Endocrinol Metab 2010 Jun 6;95(6):2885-91. Epub 2010 Apr 6.

Department of Psychiatry, University Medical Center, 20246 Hamburg-Eppendorf, Germany.

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June 2010

Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis.

Am J Pathol 2010 Feb 17;176(2):1018-27. Epub 2009 Dec 17.

Center of Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA 94110, USA.

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February 2010

Cloning mice and men: prohibiting the use of iPS cells for human reproductive cloning.

Cell Stem Cell 2010 Jan;6(1):16-20

Program in Medical Ethics, Department of Medicine, The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA 94143, USA.

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January 2010

Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease.

Heart Rhythm 2009 Dec 28;6(12):1745-50. Epub 2009 Aug 28.

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, University of California, San Francisco, California 94143-1354, USA.

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December 2009

Is altered expression of hepatic insulin-related genes in growth hormone receptor knockout mice due to GH resistance or a difference in biological life spans?

J Gerontol A Biol Sci Med Sci 2009 Nov 25;64(11):1126-33. Epub 2009 Aug 25.

Department of Internal Medicine, Geriatrics Research, Springfield, IL 62794-9628, USA.

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November 2009

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

J Allergy Clin Immunol 2009 Nov 12;124(5):1099-105.e1-4. Epub 2009 Sep 12.

Cardiovascular Research Institute, University of California at San Francisco, San Francisco, Calif, USA.

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November 2009

Glucocorticoid receptor gene and depression in patients with coronary heart disease: the Heart and Soul Study-2009 Curt Richter Award Winner.

Psychoneuroendocrinology 2009 Nov 27;34(10):1574-81. Epub 2009 Sep 27.

Department of Psychiatry, University Medical Center Hamburg-Eppendorf, Germany.

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November 2009

EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.

Circ Cardiovasc Genet 2009 Oct 22;2(5):476-82. Epub 2009 Aug 22.

Center for Cerebrovascular Research, University of California, San Francisco, Calif 94110, USA.

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October 2009