Publications by authors named "Elizabeth Chao"

64Publications

Reconstruction of Distal Nasal Defects Using Free Cartilage Batten Grafting With Secondary Intention Healing: A Retrospective Case Series of 129 Patients.

Dermatol Surg 2020 Nov 3. Epub 2020 Nov 3.

Department of Dermatology, University of California, Irvine, Irvine, California.

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http://dx.doi.org/10.1097/DSS.0000000000002714DOI Listing
November 2020

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 Jul 23;22(7):1142-1148. Epub 2020 Apr 23.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

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http://dx.doi.org/10.1038/s41436-020-0783-8DOI Listing
July 2020

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.

J Med Genet 2020 Jan 7;57(1):62-69. Epub 2019 Aug 7.

Bioinformatics, Ambry Genetics Corp, Aliso Viejo, California, USA

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http://dx.doi.org/10.1136/jmedgenet-2019-106096DOI Listing
January 2020

Design and Synthesis of Potent, Long-Acting Lipidated Relaxin-2 Analogs.

Bioconjug Chem 2019 01 13;30(1):83-89. Epub 2018 Dec 13.

Calibr at the Scripps Research Institute , 11119 North Torrey Pines Road , La Jolla , California 92037 , United States.

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http://pubs.acs.org/doi/10.1021/acs.bioconjchem.8b00764
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http://dx.doi.org/10.1021/acs.bioconjchem.8b00764DOI Listing
January 2019

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

J Natl Cancer Inst 2018 08;110(8):863-870

Division of Population Sciences, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.

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http://dx.doi.org/10.1093/jnci/djy001DOI Listing
August 2018

Stapled, Long-Acting Glucagon-like Peptide 2 Analog with Efficacy in Dextran Sodium Sulfate Induced Mouse Colitis Models.

J Med Chem 2018 04 23;61(7):3218-3223. Epub 2018 Mar 23.

California Institute for Biomedical Research , La Jolla , California 92037 , United States.

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http://dx.doi.org/10.1021/acs.jmedchem.7b00768DOI Listing
April 2018

Smartphone-Based Applications for Skin Monitoring and Melanoma Detection.

Dermatol Clin 2017 Oct 9;35(4):551-557. Epub 2017 Aug 9.

Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA. Electronic address:

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http://dx.doi.org/10.1016/j.det.2017.06.014DOI Listing
October 2017

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genet Med 2017 10 16;19(10):1096-1104. Epub 2017 Mar 16.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2017.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649PMC
October 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PLoS One 2017 2;12(2):e0170843. Epub 2017 Feb 2.

Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California Irvine, Irvine, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170843PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289469PMC
August 2017

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

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http://hmg.oxfordjournals.org/content/early/2016/03/23/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddw
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http://dx.doi.org/10.1093/hmg/ddw094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057PMC
June 2016

Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

Cancer Genet 2016 09 15;209(9):403-407. Epub 2016 Aug 15.

Department of Clinical Diagnostics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 2054 E. Hewitt Hall, Irvine, CA 92697, USA.

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http://dx.doi.org/10.1016/j.cancergen.2016.08.005DOI Listing
September 2016

Multifunctional Antibody Agonists Targeting Glucagon-like Peptide-1, Glucagon, and Glucose-Dependent Insulinotropic Polypeptide Receptors.

Angew Chem Int Ed Engl 2016 09 6;55(40):12475-8. Epub 2016 Sep 6.

California Institute for Biomedical Research (Calibr), 11119 N. Torrey Pines Road, La Jolla, CA, 92037, USA.

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http://dx.doi.org/10.1002/anie.201606321DOI Listing
September 2016

Design of Potent and Proteolytically Stable Oxyntomodulin Analogs.

ACS Chem Biol 2016 Feb 4;11(2):324-8. Epub 2016 Jan 4.

California Institute for Biomedical Research (Calibr) , 11119 North Torrey Pines Road, La Jolla, California 92037, United States.

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http://dx.doi.org/10.1021/acschembio.5b00787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4861236PMC
February 2016

ClinGen and Genetic Testing.

N Engl J Med 2015 10;373(14):1376-7

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http://dx.doi.org/10.1056/NEJMc1508700DOI Listing
October 2015

ELP2 is a novel gene implicated in neurodevelopmental disabilities.

Am J Med Genet A 2015 Jun 2;167(6):1391-5. Epub 2015 Apr 2.

Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36935DOI Listing
June 2015

Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.

Gynecol Oncol 2015 Apr 23;137(1):86-92. Epub 2015 Jan 23.

Division of Gynecologic Oncology, University of Arizona Cancer Center at Dignity Health St. Joseph's Hospital and Medical Center, Phoenix, AZ, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2015.01.537DOI Listing
April 2015

Rational design of a humanized glucagon-like peptide-1 receptor agonist antibody.

Angew Chem Int Ed Engl 2015 Feb 29;54(7):2126-30. Epub 2014 Dec 29.

California Institute for Biomedical Research (Calibr), 11119 N. Torrey Pines Road, La Jolla, CA 92037 (USA).

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http://dx.doi.org/10.1002/anie.201410049DOI Listing
February 2015

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Genet Med 2014 Nov 24;16(11):830-7. Epub 2014 Apr 24.

1] Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA [2] Division of Genetics and Metabolism, Department of Pediatrics, University of California-Irvine, Irvine, California, USA.

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http://www.ambrygen.com/sites/default/files/LaDuca%20et%20al
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http://www.nature.com/doifinder/10.1038/gim.2014.40
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http://dx.doi.org/10.1038/gim.2014.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225457PMC
November 2014

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Neurology 2014 Apr 19;82(15):1322-30. Epub 2014 Mar 19.

From the Departments of Neurology (R.J.B., T.M.N., J.L.B., K.J.S.) and Pediatrics (R.J.B., T.J.S., L.X., J.L.B., K.J.S.), Pediatric Motor Disorders Research Program (R.J.B., T.M.N., B.N., K.J.S.), and Interdepartmental Program in Neurosciences (L.X.), University of Utah School of Medicine, Salt Lake City, UT; Ambry Genetics (W.Z., X.L., H-M.L., H.L., K.D.F.G., J-P.W., E.C.C., P.J.S.), Aliso Viejo, CA; Division of Genetics & Metabolism (E.C.C.), University of California, Irvine; and Department of Molecular Pathology (T.W.P.), Ohio State University, Columbus.

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http://www.neurology.org/content/82/15/1322.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000030
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http://dx.doi.org/10.1212/WNL.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001186PMC
April 2014

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Eur J Cancer 2014 Mar 15;50(5):987-96. Epub 2014 Jan 15.

Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Arthur and Sonia Labbatt Brain Tumor Research Center, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2013.12.005DOI Listing
March 2014

Bioinformatics: what the clinical laboratorian needs to know and prepare for.

Clin Chem 2013 Sep 30;59(9):1301-5. Epub 2013 May 30.

, Geisel School of Medicine at Dartmouth, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.

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http://dx.doi.org/10.1373/clinchem.2012.198226DOI Listing
September 2013

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Hum Genet 2010 Jul 23;128(1):61-77. Epub 2010 Apr 23.

Genetic Diagnostic Laboratory, Department of Genetics, School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://link.springer.com/content/pdf/10.1007/s00439-010-0825
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http://link.springer.com/10.1007/s00439-010-0825-4
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http://dx.doi.org/10.1007/s00439-010-0825-4DOI Listing
July 2010

Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.

Cancer Prev Res (Phila) 2010 May 19;3(5):597-603. Epub 2010 Apr 19.

Department of Medicine, Weill Cornell School of Medicine, New York, New York 10021, USA.

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http://dx.doi.org/10.1158/1940-6207.CAPR-10-0007DOI Listing
May 2010

Recent advances in retinoblastoma genetic research.

Curr Opin Ophthalmol 2009 Sep;20(5):351-5

Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://pdfs.journals.lww.com/co-ophthalmology/2009/09000/Rec
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/ICU.0b013e32832f7f25DOI Listing
September 2009

Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis.

Nucleic Acids Res 2006 6;34(3):840-52. Epub 2006 Feb 6.

Department of Medicine, Division of Hematology-Oncology, University of California Irvine, CA 92697-4038, USA.

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http://dx.doi.org/10.1093/nar/gkj489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1361617PMC
February 2006

Synthesis of calcineurin-resistant derivatives of FK506 and selection of compensatory receptors.

Chem Biol 2002 Jan;9(1):49-61

Howard Hughes Medical Institute at Harvard University, Cambridge, MA 02138, USA.

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http://dx.doi.org/10.1016/s1074-5521(02)00085-6DOI Listing
January 2002

Recombinant lemA without adjuvant induces extensive expansion of H2-M3-restricted CD8 effectors, which can suppress primary listeriosis in mice.

Int Immunol 2002 Feb;14(2):225-32

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda,MD 20892-1508, USA.

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http://dx.doi.org/10.1093/intimm/14.2.225DOI Listing
February 2002