Elizabeth Carol Chao

Title(s)Associate Adjunct Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(714) 456-5792
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    1. Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing. JCO Precis Oncol. 2024 Mar; 8:e2300404. Young CC, Horton C, Grzybowski J, Abualkheir N, Ramirez Castano J, Molparia B, Karam R, Chao E, Richardson ME. PMID: 38564685.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing. JAMA Oncol. 2024 Feb 01; 10(2):212-219. Horton C, Hoang L, Zimmermann H, Young C, Grzybowski J, Durda K, Vuong H, Burks D, Cass A, LaDuca H, Richardson ME, Harrison S, Chao EC, Karam R. PMID: 37924330; PMCID: PMC10625669.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations. medRxiv. 2023 Aug 10. Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD, Regeneron Genetics Center, Penn Medicine BioBank, Nathanson KL, Drivas TG. PMID: 37609227; PMCID: PMC10441497.
      View in: PubMed   Mentions:
    4. Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 08 01; 83(15):2557-2571. Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. PMID: 37253112; PMCID: PMC10390864.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947. Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H, Medical Genome Initiative Steering Committee. PMID: 37534744; PMCID: PMC10825061.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    6. Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation. Hum Mutat. 2023; 2023. Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. PMID: 38084291; PMCID: PMC10713350.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    7. Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer. NPJ Genom Med. 2022 Aug 25; 7(1):49. Horton C, Cass A, Conner BR, Hoang L, Zimmermann H, Abualkheir N, Burks D, Qian D, Molparia B, Vuong H, LaDuca H, Grzybowski J, Durda K, Pilarski R, Profato J, Clayback K, Mahoney M, Schroeder C, Torres-Martinez W, Elliott A, Chao EC, Karam R. PMID: 36008414; PMCID: PMC9411123.
      View in: PubMed   Mentions: 6  
    8. An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance. NPJ Genom Med. 2022 Jun 03; 7(1):35. Iversen ES, Lipton G, Hart SN, Lee KY, Hu C, Polley EC, Pesaran T, Yussuf A, LaDuca H, Chao E, Karam R, Goldgar DE, Couch FJ, Monteiro ANA. PMID: 35665744; PMCID: PMC9166814.
      View in: PubMed   Mentions: 4  
    9. VHL mosaicism: the added value of multi-tissue analysis. NPJ Genom Med. 2022 Mar 18; 7(1):21. Oldfield LE, Grzybowski J, Grenier S, Chao E, Downs GS, Farncombe KM, Stockley TL, Mete O, Kim RH. PMID: 35304467; PMCID: PMC8933488.
      View in: PubMed   Mentions: 4  
    10. Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data. Cold Spring Harb Mol Case Stud. 2022 01; 8(1). Hernandez F, Conner BR, Richardson ME, LaDuca H, Chao E, Pesaran T, Karam R. PMID: 34716202; PMCID: PMC8744492.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. J Clin Oncol. 2021 12 10; 39(35):3918-3926. Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ. PMID: 34672684; PMCID: PMC8660003.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    12. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. J Natl Cancer Inst. 2021 10 01; 113(10):1429-1433. Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ. PMID: 33146377; PMCID: PMC8633452.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    13. Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440. Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ. PMID: 34292776; PMCID: PMC8547938.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    14. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1399-1415. Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM, ACMG Laboratory Quality Assurance Committee. PMID: 33927380.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    15. Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 07; 23(7):1179-1184. Chao EC, Astbury C, Deignan JL, Pronold M, Reddi HV, Weitzel JN, ACMG Laboratory Quality Assurance Committee. PMID: 33864022.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    16. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Am J Hum Genet. 2021 03 04; 108(3):458-468. Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ. PMID: 33609447; PMCID: PMC8008494.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    17. Reconstruction of Distal Nasal Defects Using Free Cartilage Batten Grafting With Secondary Intention Healing: A Retrospective Case Series of 129 Patients. Dermatol Surg. 2021 01 01; 47(1):86-93. Kim DJ, Makdisi J, Regan C, Chen PC, Chao E, Rotunda AM. PMID: 33165075.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    18. RNA-Seq Analysis Is a Useful Tool in Variant Classification. JCO Precis Oncol. 2020 Nov; 4:1226-1227. Karam R, LaDuca H, Richardson ME, Pesaran T, Chao E. PMID: 35050778.
      View in: PubMed   Mentions:    Fields:    
    19. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. J Med Genet. 2021 05; 58(5):314-325. Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. PMID: 32518176.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    20. Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 08; 22(8):1285-1287. Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S, ACMG Laboratory Quality Assurance Committee. PMID: 32404921.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    21. 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 07; 22(7):1142-1148. Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR, ACMG Professional Practice and Guidelines Committee. PMID: 32321997.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    22. Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. NPJ Precis Oncol. 2020; 4:4. Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. PMID: 32133419; PMCID: PMC7039900.
      View in: PubMed   Mentions: 26  
    23. Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. Genet Med. 2020 04; 22(4):701-708. Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE. PMID: 31853058; PMCID: PMC7118020.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    24. Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 10 02; 2(10):e1913900. Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E. PMID: 31642931; PMCID: PMC6820040.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    25. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification. Sci Rep. 2019 09 04; 9(1):12752. Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau CL, Chao EC, Lu HM, Black MH, Qian D. PMID: 31484976; PMCID: PMC6726608.
      View in: PubMed   Mentions: 32     Fields:    
    26. 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. Genet Med. 2020 02; 22(2):407-415. 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. PMID: 31406321; PMCID: PMC7000322.
      View in: PubMed   Mentions: 85     Fields:    Translation:Humans
    27. Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69. Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH. PMID: 31391288.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    28. Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders. Nucleic Acids Res. 2019 06 04; 47(10):e59. 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. PMID: 30869147; PMCID: PMC6547454.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    29. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 06; 21(6):1267-1270. Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC, ACMG Laboratory Quality Assurance Committee. PMID: 31015575; PMCID: PMC6559819.
      View in: PubMed   Mentions: 74     Fields:    Translation:Humans
    30. Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process. J Clin Oncol. 2019 03 10; 37(8):647-657. 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. PMID: 30702970; PMCID: PMC6494248.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    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. Gynecol Oncol. 2019 03; 152(3):612-617. Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP. PMID: 30612783.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    32. Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552. Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE. PMID: 30311369; PMCID: PMC6310222.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    33. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568. Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. PMID: 30311375; PMCID: PMC6188664.
      View in: PubMed   Mentions: 66     Fields:    Translation:Humans
    34. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genet Med. 2019 04; 21(4):861-866. 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. PMID: 30214068.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    35. Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med. 2018 09; 20(9):1099-1102. 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. PMID: 29388939; PMCID: PMC7608241.
      View in: PubMed   Mentions:    Fields:    
    36. Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing. J Natl Cancer Inst. 2018 08 01; 110(8):863-870. Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE. PMID: 29529297.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    37. Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent. Cancer Genet. 2018 08; 224-225:12-20. Powis Z, Espenschied CR, LaDuca H, Hagman KD, Paudyal T, Li S, Inaba H, Mauer A, Nathanson KL, Knost J, Chao EC, Tang S. PMID: 29778231.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    38. Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816. 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. PMID: 29189820; PMCID: PMC5976505.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansCells
    39. Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges. JCO Precis Oncol. 2017 Nov; 1:1-12. Lowstuter K, Espenschied CR, Sturgeon D, Ricker C, Karam R, LaDuca H, Culver JO, Dolinsky JS, Chao E, Sturgeon J, Speare V, Ma Y, Kingham K, Melas M, Idos GE, McDonnell KJ, Gruber SB. PMID: 35172483.
      View in: PubMed   Mentions: 22     Fields:    
    40. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196. 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. PMID: 28418444; PMCID: PMC5599323.
      View in: PubMed   Mentions: 263     Fields:    Translation:Humans
    41. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104. Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL. PMID: 28301460; PMCID: PMC5600649.
      View in: PubMed   Mentions: 119     Fields:    Translation:Humans
    42. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. PLoS One. 2017; 12(2):e0170843. LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. PMID: 28152038; PMCID: PMC5289469.
      View in: PubMed   Mentions: 53     Fields:    Translation:Humans
    43. Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast Cancer Res Treat. 2017 02; 161(3):575-586. Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H. PMID: 28008555; PMCID: PMC5241330.
      View in: PubMed   Mentions: 56     Fields:    Translation:Humans
    44. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582. 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. PMID: 27811861; PMCID: PMC5415437.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    45. Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer Genet. 2016 09; 209(9):403-407. Leedom TP, LaDuca H, McFarland R, Li S, Dolinsky JS, Chao EC. PMID: 27751358.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    46. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med. 2017 02; 19(2):224-235. 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. PMID: 27513193; PMCID: PMC5303763.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    47. Cardiac Glycosides Activate the Tumor Suppressor and Viral Restriction Factor Promyelocytic Leukemia Protein (PML). PLoS One. 2016; 11(3):e0152692. Milutinovic S, Heynen-Genel S, Chao E, Dewing A, Solano R, Milan L, Barron N, He M, Diaz PW, Matsuzawa S, Reed JC, Hassig CA. PMID: 27031987; PMCID: PMC4816303.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    48. 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 01; 25(11):2256-2268. de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. PMID: 27008870; PMCID: PMC5081057.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansCells
    49. Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia. Hum Genome Var. 2015; 2:15040. Hernandez F, Huether R, Carter L, Johnston T, Thompson J, Gossage JR, Chao E, Elliott AM. PMID: 27081547; PMCID: PMC4785548.
      View in: PubMed   Mentions: 29  
    50. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7. Karam R, Pesaran T, Chao E. PMID: 26422737.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    51. The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance. Fam Cancer. 2015 Sep; 14(3):481-5. Varga E, Chao EC, Yeager ND. PMID: 25712765; PMCID: PMC4559104.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    52. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn. 2015 Nov; 35(11):1073-8. Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S. PMID: 26147564.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    53. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J Med Genet A. 2015 Jun; 167(6):1391-5. Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A. PMID: 25847581.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    54. Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2. Gynecol Oncol. 2015 Apr; 137(1):86-92. Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ. PMID: 25622547.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    55. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015 Jul; 17(7):578-86. 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. PMID: 25356970.
      View in: PubMed   Mentions: 252     Fields:    Translation:Humans
    56. The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. PLoS One. 2014; 9(5):e97408. Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, Chao EC, Stuenkel AJ, Li X, Elliott AM. PMID: 24830819; PMCID: PMC4022661.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    57. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7. LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E. PMID: 24763289; PMCID: PMC4225457.
      View in: PubMed   Mentions: 160     Fields:    Translation:Humans
    58. 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. JIMD Rep. 2015; 15:29-37. Farwell Gonzalez KD, Li X, Lu HM, Lu H, Pellegrino JE, Miller RT, Zeng W, Chao EC. PMID: 24664876; PMCID: PMC4270861.
      View in: PubMed   Mentions: 6  
    59. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15; 82(15):1322-30. 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. PMID: 24647030; PMCID: PMC4001186.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    60. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur J Cancer. 2014 Mar; 50(5):987-96. Bakry D, Aronson M, Durno C, Rimawi H, Farah R, Alharbi QK, Alharbi M, Shamvil A, Ben-Shachar S, Mistry M, Constantini S, Dvir R, Qaddoumi I, Gallinger S, Lerner-Ellis J, Pollett A, Stephens D, Kelies S, Chao E, Malkin D, Bouffet E, Hawkins C, Tabori U. PMID: 24440087.
      View in: PubMed   Mentions: 78     Fields:    Translation:HumansCells
    61. Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. Genet Med. 2014 May; 16(5):395-9. Shahmirzadi L, Chao EC, Palmaer E, Parra MC, Tang S, Gonzalez KD. PMID: 24113345; PMCID: PMC4018499.
      View in: PubMed   Mentions: 57     Fields:    Translation:Humans
    62. Bioinformatics: what the clinical laboratorian needs to know and prepare for. Clin Chem. 2013 Sep; 59(9):1301-5. Tsongalis GJ, Chao E, Hagenkord JM, Hambuch T, Moore JH. PMID: 23723312.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    63. Long-term outcome of Spitz-type melanocytic tumors. Arch Dermatol. 2011 Oct; 147(10):1173-9. Sepehr A, Chao E, Trefrey B, Blackford A, Duncan LM, Flotte TJ, Sober A, Mihm MC, Tsao H. PMID: 21680758; PMCID: PMC3771496.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    64. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. 2010 Jul; 128(1):61-77. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. PMID: 20414677.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    65. Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer. Cancer Prev Res (Phila). 2010 May; 3(5):597-603. Lipkin SM, Chao EC, Moreno V, Rozek LS, Rennert H, Pinchev M, Dizon D, Rennert G, Kopelovich L, Gruber SB. PMID: 20403997.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    66. Recent advances in retinoblastoma genetic research. Curr Opin Ophthalmol. 2009 Sep; 20(5):351-5. Nichols KE, Walther S, Chao E, Shields C, Ganguly A. PMID: 19587599.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    67. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat. 2008 Jun; 29(6):852-60. 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. PMID: 18383312.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansCells
    68. Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis. Nucleic Acids Res. 2006; 34(3):840-52. Chao EC, Lipkin SM. PMID: 16464822; PMCID: PMC1361617.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansAnimalsCells
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