Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 51


REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau CL, Chao EC, Lu HM, Black MH, Qian D.

Sci Rep. 2019 Sep 4;9(1):12752. doi: 10.1038/s41598-019-49224-8.


A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.

LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.

Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]


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

Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH.

J Med Genet. 2019 Aug 7. pii: jmedgenet-2019-106096. doi: 10.1136/jmedgenet-2019-106096. [Epub ahead of print]


Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).

Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2019 Jun;21(6):1267-1270. doi: 10.1038/s41436-019-0478-1. Epub 2019 Apr 24. No abstract available.


Simulation Extrapolation Method for Cox Regression Model with a Mixture of Berkson and Classical Errors in the Covariates using Calibration Data.

Tapsoba JD, Chao EC, Wang CY.

Int J Biostat. 2019 Apr 6. pii: /j/ijb.ahead-of-print/ijb-2018-0028/ijb-2018-0028.xml. doi: 10.1515/ijb-2018-0028. [Epub ahead of print]


Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.

Hjelm BE, Rollins B, Morgan L, Sequeira A, Mamdani F, Pereira F, Damas J, Webb MG, Weber MD, Schatzberg AF, Barchas JD, Lee FS, Akil H, Watson SJ, Myers RM, Chao EC, Kimonis V, Thompson PM, Bunney WE, Vawter MP.

Nucleic Acids Res. 2019 Jun 4;47(10):e59. doi: 10.1093/nar/gkz164.


Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.

Salvador MU, Truelson MRF, Mason C, Souders B, LaDuca H, Dougall B, Black MH, Fulk K, Profato J, Gutierrez S, Jasperson K, Tippin-Davis B, Lu HM, Gray P, Shah S, Chao EC, Ghahramani N, Landsverk M, Gau CL, Chen D, Pronold M.

J Clin Oncol. 2019 Mar 10;37(8):647-657. doi: 10.1200/JCO.18.00696. Epub 2019 Jan 31.


Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.

Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.

Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.


Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.

Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL.

Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14.


Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

Powis Z, Espenschied CR, LaDuca H, Hagman KD, Paudyal T, Li S, Inaba H, Mauer A, Nathanson KL, Knost J, Chao EC, Tang S.

Cancer Genet. 2018 Aug;224-225:12-20. doi: 10.1016/j.cancergen.2018.04.002. Epub 2018 Apr 6.


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

Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.

J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.


Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S.

Genet Med. 2018 Sep;20(9):1099-1102. doi: 10.1038/gim.2017.263.


Somatic TP53 variants frequently confound germ-line testing results.

Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K.

Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30.


Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.

JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.


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

Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL.

Genet Med. 2017 Oct;19(10):1096-1104. doi: 10.1038/gim.2017.14. Epub 2017 Mar 16.


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

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC.

PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017.


Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.

Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.


A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL.

Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3.


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

Leedom TP, LaDuca H, McFarland R, Li S, Dolinsky JS, Chao EC.

Cancer Genet. 2016 Sep;209(9):403-407. doi: 10.1016/j.cancergen.2016.08.005. Epub 2016 Aug 15.


Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S.

Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11. Erratum in: Genet Med. 2018 Feb 01;:.


ELP2 is a novel gene implicated in neurodevelopmental disabilities.

Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A.

Am J Med Genet A. 2015 Jun;167(6):1391-5. doi: 10.1002/ajmg.a.36935. Epub 2015 Apr 2.


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

Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.

Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.


Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S.

Genet Med. 2015 Jul;17(7):578-86. doi: 10.1038/gim.2014.154. Epub 2014 Nov 13.


The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, Chao EC, Stuenkel AJ, Li X, Elliott AM.

PLoS One. 2014 May 15;9(5):e97408. doi: 10.1371/journal.pone.0097408. eCollection 2014. Erratum in: PLoS One. 2014;9(9):e110156.


Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

Farwell Gonzalez KD, Li X, Lu HM, Lu H, Pellegrino JE, Miller RT, Zeng W, Chao EC.

JIMD Rep. 2015;15:29-37. doi: 10.1007/8904_2014_294. Epub 2014 Mar 25.


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

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.

Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.


SGLT-2 Inhibitors: A New Mechanism for Glycemic Control.

Chao EC.

Clin Diabetes. 2014 Jan;32(1):4-11. doi: 10.2337/diaclin.32.1.4.


Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.

Shahmirzadi L, Chao EC, Palmaer E, Parra MC, Tang S, Gonzalez KD.

Genet Med. 2014 May;16(5):395-9. doi: 10.1038/gim.2013.153. Epub 2013 Oct 10.


Dapagliflozin: an evidence-based review of its potential in the treatment of type-2 diabetes.

Chao EC.

Core Evid. 2012;7:21-8. doi: 10.2147/CE.S16359. Epub 2012 Jun 1.


Dapagliflozin--redefining treatment of T2DM?

Chao EC.

Nat Rev Endocrinol. 2011 Oct 11;7(12):696-7. doi: 10.1038/nrendo.2011.177. No abstract available.


SGLT2 inhibition--a novel strategy for diabetes treatment.

Chao EC, Henry RR.

Nat Rev Drug Discov. 2010 Jul;9(7):551-9. doi: 10.1038/nrd3180. Epub 2010 May 28. Review.


Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A.

Hum Genet. 2010 Jul;128(1):61-77. doi: 10.1007/s00439-010-0825-4. Epub 2010 Apr 23.


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

Lipkin SM, Chao EC, Moreno V, Rozek LS, Rennert H, Pinchev M, Dizon D, Rennert G, Kopelovich L, Gruber SB.

Cancer Prev Res (Phila). 2010 May;3(5):597-603. doi: 10.1158/1940-6207.CAPR-10-0007. Epub 2010 Apr 19.


Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM.

Hum Mutat. 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735.


Numerical equivalence of imputing scores and weighted estimators in regression analysis with missing covariates.

Wang CY, Lee SM, Chao EC.

Biostatistics. 2007 Apr;8(2):468-73. Epub 2006 Sep 12.


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

Chao EC, Lipkin SM.

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


Structured correlation in models for clustered data.

Chao EC.

Stat Med. 2006 Jul 30;25(14):2450-68.


Gibbs sampling for long-term survival data with competing risks.

Chao EC.

Biometrics. 1998 Mar;54(1):350-66.


Inhibition of discharge in inferior colliculus, AII cortex and Ep cortex after presentations of click stimuli.

Piesman M, Chao EC, Gruen E, Woody CD, Zotova E.

Brain Res. 1994 Sep 19;657(1-2):320-4.


Petrology of unshocked crystalline rocks and shock effects in lunar rocks and minerals.

Chao EC, James OB, Minkin JA, Boreman JA, Jackson ED, Raleigh CB.

Science. 1970 Jan 30;167(3918):644-7.


Shock effects in certain rock-forming minerals.

Chao EC.

Science. 1967 Apr 14;156(3772):192-202.


Nickel-iron spherules from aouelioul glass.

Chao EC, Dwornik EJ, Merrill CW.

Science. 1966 Nov 11;154(3750):759-65.


Metallic Spherules in Tektites from Isabela, Philippine Islands.

Chao EC, Adler I, Dwornik EJ, Littler J.

Science. 1962 Jan 12;135(3498):97-8.


Coesite from Wabar Crater, near Al Hadida, Arabia.

Chao EC, Fahey JJ, Littler J.

Science. 1961 Mar 24;133(3456):882-3.


Supplemental Content

Support Center