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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Targeted genomic profiling of acral melanoma.

J Natl Cancer Inst 2019 Jan 18. Epub 2019 Jan 18.

Department of Dermatology, Massachusetts General Hospital and Department of Population Medicine, Harvard Pilgrim Health Care Institute, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1093/jnci/djz005DOI Listing
January 2019

A comprehensive evaluation of the genetic architecture of sudden cardiac arrest.

Eur Heart J 2018 Nov;39(44):3961-3969

Cardiovascular Health Research Unit, Division of Cardiology, Departments of Medicine and Epidemiology, University of Washington, 1730 Minor Ave, Seattle, WA, USA.

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/eurheartj/ehy474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247663PMC
November 2018

Integrative approach identifies corticosteroid response variant in diverse populations with asthma.

J Allergy Clin Immunol 2018 Oct 24. Epub 2018 Oct 24.

Center for Individualized and Genomic Medicine Research (CIGMA), Henry Ford Health System, Detroit, Mich; Department of Internal Medicine, Henry Ford Health System, Detroit, Mich. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183148
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http://dx.doi.org/10.1016/j.jaci.2018.09.034DOI Listing
October 2018

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

Nat Commun 2018 08 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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http://www.nature.com/articles/s41467-018-05513-w
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http://dx.doi.org/10.1038/s41467-018-05513-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072799PMC
August 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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http://dx.doi.org/10.1101/gr.225730.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741062PMC
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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http://dx.doi.org/10.1016/j.ejmg.2017.07.003DOI Listing
October 2017

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

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

School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, China

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http://dx.doi.org/10.1093/bioinformatics/btw620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409310PMC
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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http://dx.doi.org/10.1038/ng.3715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370207PMC
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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http://dx.doi.org/10.1111/jce.13083DOI Listing
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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http://dx.doi.org/10.1097/EDE.0000000000000503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505271PMC
September 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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http://dx.doi.org/10.1016/j.ccep.2015.10.033DOI Listing
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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http://dx.doi.org/10.1093/hmg/ddv167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492397PMC
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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http://dx.doi.org/10.1158/2159-8290.CD-15-0315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527942PMC
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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http://dev.biologists.org/cgi/doi/10.1242/dev.126391
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http://dx.doi.org/10.1242/dev.126391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550968PMC
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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http://dx.doi.org/10.1158/2159-8290.CD-14-0892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390477PMC
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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http://www.nature.com/articles/ejhg2014119
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http://dx.doi.org/10.1038/ejhg.2014.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326713PMC
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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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291241PMC
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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http://dx.doi.org/10.1161/CIRCGENETICS.114.000650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334693PMC
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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http://dx.doi.org/10.1093/gerona/glt203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271021PMC
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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http://dx.doi.org/10.1101/gr.168393.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216915PMC
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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http://dx.doi.org/10.1016/j.celrep.2014.09.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251494PMC
November 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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http://dx.doi.org/10.1186/1756-0500-7-360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068968PMC
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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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-15-387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053653PMC
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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http://doi.wiley.com/10.1002/humu.22270
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http://dx.doi.org/10.1002/humu.22270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606662PMC
April 2013

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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http://dx.doi.org/10.1021/nl302069qDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880789PMC
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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http://doi.wiley.com/10.1002/humu.22008
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http://dx.doi.org/10.1002/humu.22008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867005PMC
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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http://dx.doi.org/10.1158/0008-5472.CAN-11-1682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271167PMC
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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http://dx.doi.org/10.1038/oby.2011.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646950PMC
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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http://dx.doi.org/10.1186/1471-2350-12-167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3274454PMC
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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http://dx.doi.org/10.1159/000322601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030504PMC
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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http://dx.doi.org/10.1186/1471-2261-11-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141757PMC
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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0019454PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084857PMC
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099058PMC
November 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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http://dx.doi.org/10.2353/ajpath.2010.090925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913339PMC
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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http://dx.doi.org/10.1210/jc.2009-2251DOI Listing
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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http://dx.doi.org/10.2353/ajpath.2010.090453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808104PMC
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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http://dx.doi.org/10.1016/j.stem.2009.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035242PMC
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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http://dx.doi.org/10.1016/j.hrthm.2009.08.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2789271PMC
December 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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http://dx.doi.org/10.1016/j.jaci.2009.07.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783561PMC
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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http://dx.doi.org/10.1016/j.psyneuen.2009.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776666PMC
November 2009