Publications by authors named "Elizabeth C Chao"

32Publications

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

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

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

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

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

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

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

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