Keywords
Last Name
Institution

SHARON E PLON

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
DivisionPediatrics-Oncology
AddressOne Baylor Plaza
Houston TX 77030
vCardDownload vCard
    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentHuman Genome Sequencing Center
    DivisionHuman Genome Sequencing Center

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


    Collapse Additional Tools and Researcher Information 
    Collapse Featured Presentations
    Collapse Websites
    Collapse Verify Publications

    Collapse Biography 
    Collapse awards and honors
    2013 - 2014Baylor Research Advocates for Student Scientists Mentor of the Year Award, Baylor College of Medicine
    2011 - 2012Barbara and Corbin J. Robertson, Jr. Presidential Award for Excellence in Education, Baylor College of Medicine
    2006 - 2007Fulbright & Jaworski L.L.P. Faculty Excellence Award in Teaching and Evaluation, Baylor College of Medicine
    2006 - 2007Texas Children’s Cancer Center & Hematology Service Faculty Education Award, Texas Children's Hospital
    2000 - 2001Award for Excellence in Teaching and the Pursuit of Research, Department of Pediatrics, Baylor College of Medicine

    Collapse Overview 
    Collapse overview
    Dr. Plon is a diplomat of the American Board of Medical Genetics and Genomics. She received her MD and PhD (Biophysics) from Harvard University and completed her medical genetics training at the University of Washington. Dr. Plon has been a faculty member of Baylor College of Medicine and Texas Children’s Hospital for 23 years. For the last 15 years, her research includes identification of novel cancer susceptibility genes and implementation of genomic testing in medicine including an NHGRI-funded project on non-geneticist physician interpretation of variants of uncertain significance. Dr. Plon and D. William Parsons are principal investigators of the NHGRI/NCI-funded BASIC3 clinical trial on the incorporation of exome sequencing into the care of newly diagnosed childhood cancer patients from the highly diverse Texas Children’s Cancer Center patient population. Dr. Plon is also principal investigator of the NHGRI Clinical Genomics Resource (ClinGen) which is developing national databases and curation interfaces to improve assessment of all types of clinical variation.

    Collapse keywords
    cancer genetics, genetic testing, medical genetics, genomic instability


    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ. Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 Apr 05; 173(2):355-370.e14. PMID: 29625052.
      View in: PubMed
    2. Rahimzadeh V, Schickhardt C, Knoppers BM, Sénécal K, Vears DF, Fernandez CV, Pfister S, Plon S, Terry S, Williams J, Williams MS, Cornel M, Friedman JM. Key Implications of Data Sharing in Pediatric Genomics. JAMA Pediatr. 2018 Mar 19. PMID: 29554172.
      View in: PubMed
    3. Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC. Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. NPJ Genom Med. 2018; 3:7. PMID: 29479477.
      View in: PubMed
    4. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 04; 171(12):e173438. PMID: 28973083.
      View in: PubMed
    5. Ghosh R, Oak N, Plon SE. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 2017 Nov 28; 18(1):225. PMID: 29179779.
      View in: PubMed
    6. Malkin D, Nichols KE, Schiffman JD, Plon SE, Brodeur GM. The Future of Surveillance in the Context of Cancer Predisposition: Through the Murky Looking Glass. Clin Cancer Res. 2017 Nov 01; 23(21):e133-e137. PMID: 29093018.
      View in: PubMed
    7. Skalet AH, Gombos DS, Gallie BL, Kim JW, Shields CL, Marr BP, Plon SE, Chévez-Barrios P. Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology. 2018 Mar; 125(3):453-458. PMID: 29056300.
      View in: PubMed
    8. Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515. PMID: 28942966.
      View in: PubMed
    9. Archer NP, Perez-Andreu V, Stoltze U, Scheurer ME, Wilkinson AV, Lin TN, Qian M, Goodings C, Swartz MD, Ranjit N, Rabin KR, Peckham-Gregory EC, Plon SE, de Alarcon PA, Zabriskie RC, Antillon-Klussmann F, Najera CR, Yang JJ, Lupo PJ. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS One. 2017; 12(8):e0180488. PMID: 28817678.
      View in: PubMed
    10. Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 Jul 01; 23(13):e107-e114. PMID: 28674119.
      View in: PubMed
    11. Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res. 2017 Jul 01; 23(13):e115-e122. PMID: 28674120.
      View in: PubMed
    12. Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Schneider KW, Scott HS, Plon SE, Tabori U. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1. Clin Cancer Res. 2017 Jun 15; 23(12):e46-e53. PMID: 28620004.
      View in: PubMed
    13. Norwood MS, Lupo PJ, Chow EJ, Scheurer ME, Plon SE, Danysh HE, Spector LG, Carozza SE, Doody DR, Mueller BA. Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013. PLoS One. 2017; 12(6):e0179006. PMID: 28594943.
      View in: PubMed
    14. Brodeur GM, Nichols KE, Plon SE, Schiffman JD, Malkin D. Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr. Clin Cancer Res. 2017 Jun 01; 23(11):e1-e5. PMID: 28572261.
      View in: PubMed
    15. Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31. PMID: 28572264.
      View in: PubMed
    16. Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, Brugières L. Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood. Clin Cancer Res. 2017 Jun 01; 23(11):e32-e37. PMID: 28572265.
      View in: PubMed
    17. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017 Jun 01; 100(6):895-906. PMID: 28552198.
      View in: PubMed
    18. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 Mar 21; 9(1):26. PMID: 28327206.
      View in: PubMed
    19. Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Mar 13. PMID: 28288113.
      View in: PubMed
    20. Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 Jan 12; 9(1):3. PMID: 28081714.
      View in: PubMed
    21. Heikamp EB, Parsons DW, Plon SE. 50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders. J Pediatr. 2017 Jan; 180:115. PMID: 28010789.
      View in: PubMed
    22. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31. PMID: 27959697.
      View in: PubMed
    23. Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 Nov 04; 8(1):117. PMID: 27814769.
      View in: PubMed
    24. 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. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2016 Nov 03. PMID: 27811861.
      View in: PubMed
    25. Potter SL, Venkatramani R, Wenderfer S, Graham BH, Vasudevan SA, Sher A, Wu H, Wheeler DA, Yang Y, Eng CM, Gibbs RA, Roy A, Plon SE, Parsons DW. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2016 Oct 17. PMID: 27748010.
      View in: PubMed
    26. Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW. Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001057. PMID: 27626068; PMCID: PMC5002928.
    27. Archer NP, Perez-Andreu V, Scheurer ME, Rabin KR, Peckham-Gregory EC, Plon SE, Zabriskie RC, De Alarcon PA, Fernandez KS, Najera CR, Yang JJ, Antillon-Klussmann F, Lupo PJ. Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in hispanics. Cancer. 2016 Dec 1; 122(23):3697-3704. PMID: 27529658.
      View in: PubMed
    28. Plon SE. Improvement of outcomes for TP53 carriers. Lancet Oncol. 2016 Sep; 17(9):1184-6. PMID: 27501768.
      View in: PubMed
    29. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 Jul 18. PMID: 27427983.
      View in: PubMed
    30. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 Jul 07; 99(1):247. PMID: 27392081.
      View in: PubMed
    31. Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jul 7; 99(1):246. PMID: 27392080.
      View in: PubMed
    32. Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MM. Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group. J Clin Oncol. 2016 Jun 27. PMID: 27354474.
      View in: PubMed
    33. Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man TK, Plon SE, Gibbs RA, Lau CC. SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code Biol Med. 2016; 11:8. PMID: 27330550; PMCID: PMC4913042.
    34. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 May 12. PMID: 27171546.
      View in: PubMed
    35. Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 May 12. PMID: 27181682.
      View in: PubMed
    36. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 Jun 2; 98(6):1067-76. PMID: 27181684; PMCID: PMC4908185 [Available on 12/02/16].
    37. Rustagi N, Hampton OA, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DA. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. BMC Bioinformatics. 2016; 17:188. PMID: 27121965; PMCID: PMC4847212.
    38. Hingorani P, Janeway K, Crompton BD, Kadoch C, Mackall CL, Khan J, Shern JF, Schiffman J, Mirabello L, Savage SA, Ladanyi M, Meltzer P, Bult CJ, Adamson PC, Lupo PJ, Mody R, DuBois SG, Parsons DW, Khanna C, Lau C, Hawkins DS, Randall RL, Smith M, Sorensen PH, Plon SE, Skapek SX, Lessnick S, Gorlick R, Reed DR. Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop. Cancer Genet. 2016 Apr 5. PMID: 27132463.
      View in: PubMed
    39. Saliba J, Zabriskie R, Ghosh R, Powell BC, Hicks S, Kimmel M, Meng Q, Ritter DI, Wheeler DA, Gibbs RA, Tsai FT, Plon SE. Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenet Genomics. 2016 Feb 22. PMID: 26906009.
      View in: PubMed
    40. Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016; 7:10713. PMID: 26888176; PMCID: PMC4759630.
    41. Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 Jan 28. PMID: 26822237.
      View in: PubMed
    42. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 Jul; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996 [Available on 01/01/17].
    43. Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, Plon SE. Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst. 2016 Apr; 108(4). PMID: 26590952.
      View in: PubMed
    44. Roy A, Kumar V, Zorman B, Fang E, Haines KM, Doddapaneni H, Hampton OA, White S, Bavle AA, Patel NR, Eldin KW, John Hicks M, Rakheja D, Leavey PJ, Skapek SX, Amatruda JF, Nuchtern JG, Chintagumpala MM, Wheeler DA, Plon SE, Sumazin P, Parsons DW. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015; 6:8891. PMID: 26573325.
      View in: PubMed
    45. McCullough LB, Slashinski MJ, McGuire AL, Street RL, Eng CM, Gibbs RA, Parsons DW, Plon SE. Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatr Blood Cancer. 2016 Mar; 63(3):511-5. PMID: 26505993.
      View in: PubMed
    46. Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJ. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. J Mol Diagn. 2015 Sep; 17(5):545-53. PMID: 26320870.
      View in: PubMed
    47. Plon SE. BRCA1/2 population screening: embracing the benefits. Curr Oncol. 2015 Aug; 22(4):e230-1. PMID: 26300670.
      View in: PubMed
    48. Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, Jarvik GP, Plon SE, Stoffel EM, Tarczy-Hornoch PZ, Van Allen EM, Weck KE, Chute CG, Freimuth RR, Grundmeier RW, Hartzler AL, Li R, Peissig PL, Peterson JF, Rasmussen LV, Starren JB, Williams MS, Overby CL. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015 Nov; 22(6):1231-42. PMID: 26142422.
      View in: PubMed
    49. Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec; 62(6):1914-6. PMID: 25921221.
      View in: PubMed
    50. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4; 372(23):2235-42. PMID: 26014595.
      View in: PubMed
    51. Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9. PMID: 25856668.
      View in: PubMed
    52. Lupo PJ, Danysh HE, Plon SE, Curtin K, Malkin D, Hettmer S, Hawkins DS, Skapek SX, Spector LG, Papworth K, Melin B, Erhardt EB, Grufferman S, Schiffman JD. Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database. Cancer Med. 2015 May; 4(5):781-90. PMID: 25809884; PMCID: PMC4430270.
    53. Jalali A, Amirian ES, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015; 5:8278. PMID: 25652157; PMCID: PMC4317686.
    54. Ritter DI, Haines K, Cheung H, Davis CF, Lau CC, Berg JS, Brown CW, Thompson PA, Gibbs R, Wheeler DA, Plon SE. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5. PMID: 25569436.
      View in: PubMed
    55. Scollon S, Bergstrom K, McCullough LB, McGuire AL, Gutierrez S, Kerstein R, Parsons DW, Plon SE. Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. J Law Med Ethics. 2015; 43(3):529-37. PMID: 26479562.
      View in: PubMed
    56. Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384. PMID: 25482530; PMCID: PMC4296199.
    57. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9. PMID: 25326635; PMCID: PMC4326249.
    58. Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang WL, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, Okcu MF, Plon SE, Hicks MJ, López-Terrada D, Parsons DW, Roy A. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86. PMID: 25360585; PMCID: PMC4385430.
    59. Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Med. 2014; 6(9):69. PMID: 25317207; PMCID: PMC4195891.
    60. Alderfer MA, Zelley K, Lindell RB, Novokmet A, Mai PL, Garber JE, Nathan D, Scollon S, Chun NM, Patenaude AF, Ford JM, Plon SE, Schiffman JD, Diller LR, Savage SA, Malkin D, Ford CA, Nichols KE. Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer. 2015 Jan 15; 121(2):286-93. PMID: 25223899.
      View in: PubMed
    61. Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM. Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. J Clin Oncol. 2014 Jul 20; 32(21):2203-5. PMID: 24958819; PMCID: PMC4188159.
    62. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1; 94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
    63. Hill DA, Horick NK, Isaacs C, Domchek SM, Tomlinson GE, Lowery JT, Kinney AY, Berg JS, Edwards KL, Moorman PG, Plon SE, Strong LC, Ziogas A, Griffin CA, Kasten CH, Finkelstein DM. Long-term risk of medical conditions associated with breast cancer treatment. Breast Cancer Res Treat. 2014 May; 145(1):233-43. PMID: 24696430; PMCID: PMC4096572.
    64. Eng CM, Yang Y, Plon SE. Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 Mar 13; 370(11):1068. PMID: 24620872.
      View in: PubMed
    65. Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7. PMID: 24195999; PMCID: PMC3935342.
    66. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11. PMID: 24088041; PMCID: PMC4211433.
    67. Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med. 2013 Oct; 15(10):824-32. PMID: 24071794; PMCID: PMC3951437.
    68. Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi SC, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler DA, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts KG, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-31. PMID: 24013638; PMCID: PMC3919799.
    69. Ramoni RB, McGuire AL, Robinson JO, Morley DS, Plon SE, Joffe S. Experiences and attitudes of genome investigators regarding return of individual genetic test results. Genet Med. 2013 Nov; 15(11):882-7. PMID: 23639901; PMCID: PMC4143384.
    70. Wangler MF, Chavan R, Hicks MJ, Nuchtern JG, Hegde M, Plon SE, Thompson PA. Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. J Pediatr Hematol Oncol. 2013 May; 35(4):323-8. PMID: 23426006; PMCID: PMC3708690.
    71. Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist. 2013; 18(5):518-24. PMID: 23615697; PMCID: PMC3662842.
    72. McGuire AL, Robinson JO, Ramoni RB, Morley DS, Jofe S, Plon SE. Returning genetic research results: study type matters. Per Med. 2013 Jan; 10(1):27-34. PMID: 24077424.
      View in: PubMed
    73. Hicks S, Plon SE, Kimmel M. Statistical analysis of missense mutation classifiers. Hum Mutat. 2013 Feb; 34(2):405-6. PMID: 23086893.
      View in: PubMed
    74. Powell BC, Jiang L, Muzny DM, Treviño LR, Dreyer ZE, Strong LC, Wheeler DA, Gibbs RA, Plon SE. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 Jun; 60(6):E1-3. PMID: 23255406; PMCID: PMC3926299.
    75. Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU. The practice of adult genetics: a 7-year experience from a single center. Am J Med Genet A. 2013 Jan; 161A(1):89-93. PMID: 23239603.
      View in: PubMed
    76. Biesecker LG, Burke W, Kohane I, Plon SE, Zimmern R. Next-generation sequencing in the clinic: are we ready? Nat Rev Genet. 2012 Nov; 13(11):818-24. PMID: 23076269; PMCID: PMC3891793.
    77. Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. PMID: 22878507; PMCID: PMC3705759.
    78. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. PMID: 22422049; PMCID: PMC3763716.
    79. Dhar SU, Chintagumpala M, Noll C, Chévez-Barrios P, Paysse EA, Plon SE. Outcomes of integrating genetics in management of patients with retinoblastoma. Arch Ophthalmol. 2011 Nov; 129(11):1428-34. PMID: 22084214.
      View in: PubMed
    80. Ziogas A, Horick NK, Kinney AY, Lowery JT, Domchek SM, Isaacs C, Griffin CA, Moorman PG, Edwards KL, Hill DA, Berg JS, Tomlinson GE, Anton-Culver H, Strong LC, Kasten CH, Finkelstein DM, Plon SE. Clinically relevant changes in family history of cancer over time. JAMA. 2011 Jul 13; 306(2):172-8. PMID: 21750294; PMCID: PMC3367662.
    81. Cheung HC, Yatsenko SA, Kadapakkam M, Legay H, Su J, Lupski JR, Plon SE. Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma. Pediatr Blood Cancer. 2012 May; 58(5):801-5. PMID: 21681934; PMCID: PMC3202030.
    82. Loudin MG, Wang J, Leung HC, Gurusiddappa S, Meyer J, Condos G, Morrison D, Tsimelzon A, Devidas M, Heerema NA, Carroll AJ, Plon SE, Hunger SP, Basso G, Pession A, Bhojwani D, Carroll WL, Rabin KR. Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles. Leukemia. 2011 Oct; 25(10):1555-63. PMID: 21647151; PMCID: PMC4107887.
    83. Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 8; 88(4):402-21. PMID: 21473982; PMCID: PMC3071916.
    84. Hicks S, Wheeler DA, Plon SE, Kimmel M. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat. 2011 Jun; 32(6):661-8. PMID: 21480434; PMCID: PMC4154965.
    85. Dhar SU, Cooper HP, Wang T, Parks B, Staggs SA, Hilsenbeck S, Plon SE. Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers. Breast Cancer Res Treat. 2011 Aug; 129(1):221-7. PMID: 21465171; PMCID: PMC3155891.
    86. Plon SE. Unifying cancer genetics. Genet Med. 2011 Mar; 13(3):203-4. PMID: 21311342; PMCID: PMC3412587.
    87. Plon SE, Cooper HP, Parks B, Dhar SU, Kelly PA, Weinberg AD, Staggs S, Wang T, Hilsenbeck S. Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med. 2011 Feb; 13(2):148-54. PMID: 21224735; PMCID: PMC3096073.
    88. Plon SE, Wheeler DA, Strong LC, Tomlinson GE, Pirics M, Meng Q, Cheung HC, Begin PR, Muzny DM, Lewis L, Biegel JA, Gibbs RA. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25. PMID: 21356188; PMCID: PMC3075924.
    89. Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A. 2011 Feb; 155A(2):337-42. PMID: 21271650; PMCID: PMC3069503.
    90. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6. PMID: 21150890; PMCID: PMC3061988.
    91. Singh DK, Karmakar P, Aamann M, Schurman SH, May A, Croteau DL, Burks L, Plon SE, Bohr VA. The involvement of human RECQL4 in DNA double-strand break repair. Aging Cell. 2010 Jun; 9(3):358-71. PMID: 20222902; PMCID: PMC4624395.
    92. Strome ED, Plon SE. Utilizing Saccharomyces cerevisiae to identify aneuploidy and cancer susceptibility genes. Methods Mol Biol. 2010; 653:73-85. PMID: 20721738.
      View in: PubMed
    93. Spurdle AB, Fahey P, Chen X, McGuffog L. Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2010 Jul; 122(1):281-5. PMID: 19921428; PMCID: PMC3074275.
    94. Poland KS, Shardy DL, Azim M, Naeem R, Krance RA, Dreyer ZE, Neeley ES, Zhang N, Qiu YH, Kornblau SM, Plon SE. Overexpression of ZNF342 by juxtaposition with MPO promoter/enhancer in the novel translocation t(17;19)(q23;q13.32) in pediatric acute myeloid leukemia and analysis of ZNF342 expression in leukemia. Genes Chromosomes Cancer. 2009 Jun; 48(6):480-9. PMID: 19255975; PMCID: PMC3385932.
    95. Gaikwad A, Rye CL, Devidas M, Heerema NA, Carroll AJ, Izraeli S, Plon SE, Basso G, Pession A, Rabin KR. Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol. 2009 Mar; 144(6):930-2. PMID: 19120350; PMCID: PMC2724897.
    96. Wu X, Strome ED, Meng Q, Hastings PJ, Plon SE, Kimmel M. A robust estimator of mutation rates. Mutat Res. 2009 Feb 10; 661(1-2):101-9. PMID: 19100753.
      View in: PubMed
    97. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008 Nov; 29(11):1282-91. PMID: 18951446; PMCID: PMC3075918.
    98. Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB. Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat. 2008 Nov; 29(11):1273-81. PMID: 18951438; PMCID: PMC3446852.
    99. Valle M, Plon SE, Rabin KR. Differential in vitro cytotoxicity does not explain increased host toxicities from chemotherapy in Down syndrome acute lymphoblastic leukemia. Leuk Res. 2009 Feb; 33(2):336-9. PMID: 18718659; PMCID: PMC2637345.
    100. Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb; 17(2):151-8. PMID: 18716613; PMCID: PMC2986053.
    101. Rabin KR, Man TK, Yu A, Folsom MR, Zhao YJ, Rao PH, Plon SE, Naeem RC. Clinical utility of array comparative genomic hybridization for detection of chromosomal abnormalities in pediatric acute lymphoblastic leukemia. Pediatr Blood Cancer. 2008 Aug; 51(2):171-7. PMID: 18253961; PMCID: PMC4063297.
    102. Plon SE, Pirics ML, Nuchtern J, Hicks J, Russell H, Agrawal S, Zbuk K, Eng C, Hegde M, Chin EL. Multiple tumors in a child with germ-line mutations in TP53 and PTEN. N Engl J Med. 2008 Jul 31; 359(5):537-9. PMID: 18669439.
      View in: PubMed
    103. Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum Genet. 2008 Jul; 123(6):643-53. PMID: 18504617; PMCID: PMC2585174.
    104. Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008 Aug 15; 112(4):1042-7. PMID: 18487507; PMCID: PMC2515126.
    105. Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008 May; 94(1):105-11. PMID: 18289904; PMCID: PMC2430595.
    106. Strome ED, Wu X, Kimmel M, Plon SE. Heterozygous screen in Saccharomyces cerevisiae identifies dosage-sensitive genes that affect chromosome stability. Genetics. 2008 Mar; 178(3):1193-207. PMID: 18245329; PMCID: PMC2278055.
    107. Chintagumpala M, Chevez-Barrios P, Paysse EA, Plon SE, Hurwitz R. Retinoblastoma: review of current management. Oncologist. 2007 Oct; 12(10):1237-46. PMID: 17962617.
      View in: PubMed
    108. Poland KS, Azim M, Folsom M, Goldfarb R, Naeem R, Korch C, Drabkin HA, Gemmill RM, Plon SE. A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma. Genes Chromosomes Cancer. 2007 Sep; 46(9):805-12. PMID: 17539022.
      View in: PubMed
    109. Horton TM, Pati D, Plon SE, Thompson PA, Bomgaars LR, Adamson PC, Ingle AM, Wright J, Brockman AH, Paton M, Blaney SM. A phase 1 study of the proteasome inhibitor bortezomib in pediatric patients with refractory leukemia: a Children's Oncology Group study. Clin Cancer Res. 2007 Mar 1; 13(5):1516-22. PMID: 17332297.
      View in: PubMed
    110. Burks LM, Yin J, Plon SE. Nuclear import and retention domains in the amino terminus of RECQL4. Gene. 2007 Apr 15; 391(1-2):26-38. PMID: 17250975.
      View in: PubMed
    111. Mukhopadhyay SS, Leung KS, Hicks MJ, Hastings PJ, Youssoufian H, Plon SE. Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia. J Cell Biol. 2006 Oct 23; 175(2):225-35. PMID: 17060495; PMCID: PMC2064564.
    112. Busygina V, Kottemann MC, Scott KL, Plon SE, Bale AE. Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response. Cancer Res. 2006 Sep 1; 66(17):8397-403. PMID: 16951149.
      View in: PubMed
    113. Vasudevan SA, Patel JC, Wesson DE, Plon SE, Finegold MJ, Nuchtern JG. Severe dysplasia in children with familial adenomatous polyposis: rare or simply overlooked? J Pediatr Surg. 2006 Apr; 41(4):658-61. PMID: 16567172.
      View in: PubMed
    114. Horton TM, Gannavarapu A, Blaney SM, D'Argenio DZ, Plon SE, Berg SL. Bortezomib interactions with chemotherapy agents in acute leukemia in vitro. Cancer Chemother Pharmacol. 2006 Jul; 58(1):13-23. PMID: 16292537.
      View in: PubMed
    115. Scott KL, Plon SE. CHES1/FOXN3 interacts with Ski-interacting protein and acts as a transcriptional repressor. Gene. 2005 Oct 10; 359:119-26. PMID: 16102918.
      View in: PubMed
    116. Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res. 2005 Jul 1; 11(13):4689-93. PMID: 16000562.
      View in: PubMed
    117. Plon SE, Nathanson K. Inherited susceptibility for pediatric cancer. Cancer J. 2005 Jul-Aug; 11(4):255-67. PMID: 16197716.
      View in: PubMed
    118. Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006 Feb; 43(2):148-52. PMID: 15964893; PMCID: PMC2564634.
    119. Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer. 2005 Jan; 42(1):82-6. PMID: 15390181.
      View in: PubMed
    120. Zhang L, Plon SE, Nuchtern JG, Burlingame S, Blaney S, Rousseau R, Berg S. Cyclin D and cisplatin cytotoxicity in primary neuroblastoma cell lines. Anticancer Drugs. 2004 Oct; 15(9):883-8. PMID: 15457129.
      View in: PubMed
    121. Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, McCluggage C, Plon SE. Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1. Am J Med Genet A. 2004 Jun 15; 127A(3):224-9. PMID: 15150770.
      View in: PubMed
    122. Levy-Lahad E, Plon SE. Cancer. A risky business--assessing breast cancer risk. Science. 2003 Oct 24; 302(5645):574-5. PMID: 14576407.
      View in: PubMed
    123. Scott KL, Plon SE. Loss of Sin3/Rpd3 histone deacetylase restores the DNA damage response in checkpoint-deficient strains of Saccharomyces cerevisiae. Mol Cell Biol. 2003 Jul; 23(13):4522-31. PMID: 12808094; PMCID: PMC164854.
    124. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 7; 95(9):669-74. PMID: 12734318.
      View in: PubMed
    125. Wang LL, Gannavarapu A, Clericuzio CL, Erickson RP, Irvine AD, Plon SE. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A. 2003 Apr 30; 118A(3):299-301. PMID: 12673665.
      View in: PubMed
    126. Friedman L, Cooper HP, Webb JA, Weinberg AD, Plon SE. Primary care physicians' attitudes and practices regarding cancer genetics: a comparison of 2001 with 1996 survey results. J Cancer Educ. 2003; 18(2):91-4. PMID: 12888383.
      View in: PubMed
    127. Pati D, Zhang N, Plon SE. Linking sister chromatid cohesion and apoptosis: role of Rad21. Mol Cell Biol. 2002 Dec; 22(23):8267-77. PMID: 12417729; PMCID: PMC134054.
    128. Barnes-Kedar IM, Plon SE. Counseling the at risk patient in the BRCA1 and BRCA2 Era. Obstet Gynecol Clin North Am. 2002 Jun; 29(2):341-66, vii. PMID: 12108833.
      View in: PubMed
    129. Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE. Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet. 2002 Jul; 71(1):165-7. PMID: 12016592; PMCID: PMC384974.
    130. Shohet JM, Hicks MJ, Plon SE, Burlingame SM, Stuart S, Chen SY, Brenner MK, Nuchtern JG. Minichromosome maintenance protein MCM7 is a direct target of the MYCN transcription factor in neuroblastoma. Cancer Res. 2002 Feb 15; 62(4):1123-8. PMID: 11861392.
      View in: PubMed
    131. Cabello OA, Eliseeva E, He WG, Youssoufian H, Plon SE, Brinkley BR, Belmont JW. Cell cycle-dependent expression and nucleolar localization of hCAP-H. Mol Biol Cell. 2001 Nov; 12(11):3527-37. PMID: 11694586; PMCID: PMC60273.
    132. Eliseeva E, Pati D, Diccinanni MB, Yu AL, Mohsin SK, Margolin JF, Plon SE. Expression and localization of the CDC34 ubiquitin-conjugating enzyme in pediatric acute lymphoblastic leukemia. Cell Growth Differ. 2001 Aug; 12(8):427-33. PMID: 11504708.
      View in: PubMed
    133. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001 Jul 22; 102(1):11-7. PMID: 11471165.
      View in: PubMed
    134. Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am J Med Genet. 2001 Jun 15; 101(2):130-4. PMID: 11391655.
      View in: PubMed
    135. Airewele GE, Sigurdson AJ, Wiley KJ, Frieden BE, Caldarera LW, Riccardi VM, Lewis RA, Chintagumpala MM, Ater JL, Plon SE, Bondy ML. Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer. Genet Epidemiol. 2001 Jan; 20(1):75-86. PMID: 11119298.
      View in: PubMed
    136. Plon SE, Peterson LE, Friedman LC, Richards CS. Mammography behavior after receiving a negative BRCA1 mutation test result in the Ashkenazim: a community-based study. Genet Med. 2000 Nov-Dec; 2(6):307-11. PMID: 11339650.
      View in: PubMed
    137. Friedman LC, Webb JA, Richards CS, Plon SE. Psychological and behavioral factors associated with colorectal cancer screening among Ashkenazim. Prev Med. 1999 Aug; 29(2):119-25. PMID: 10446038.
      View in: PubMed
    138. Pati D, Meistrich ML, Plon SE. Human Cdc34 and Rad6B ubiquitin-conjugating enzymes target repressors of cyclic AMP-induced transcription for proteolysis. Mol Cell Biol. 1999 Jul; 19(7):5001-13. PMID: 10373550; PMCID: PMC84326.
    139. Keller C, Keller KR, Shew SB, Plon SE. Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr; 134(4):472-9. PMID: 10190923.
      View in: PubMed
    140. Friedman LC, Webb JA, Richards CS, Lynch GR, Kaplan AL, Brunicardi FC, Plon SE. Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim. Genet Med. 1999 Mar-Apr; 1(3):74-9. PMID: 11336456.
      View in: PubMed
    141. Plon SE. Screening and clinical implications for BRCA1 and BRCA2 mutation carriers. J Mammary Gland Biol Neoplasia. 1998 Oct; 3(4):377-87. PMID: 10819532.
      View in: PubMed
    142. Pati D, Keller C, Groudine M, Plon SE. Reconstitution of a MEC1-independent checkpoint in yeast by expression of a novel human fork head cDNA. Mol Cell Biol. 1997 Jun; 17(6):3037-46. PMID: 9154802; PMCID: PMC232156.
    143. Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SE. Screening for 185delAG in the Ashkenazim. Am J Hum Genet. 1997 May; 60(5):1085-98. PMID: 9150156; PMCID: PMC1712425.
    144. Plon SE. Anticipation in pediatric malignancies. Am J Hum Genet. 1997 May; 60(5):1256-7. PMID: 9150177; PMCID: PMC1712442.
    145. Peterson LE, Dreyer ZE, Plon SE, Smith JL, Weinberg AD, McCarthy PL. Design and analysis of epidemiological studies of excess cancer among children exposed to Chernobyl radionuclides. Stem Cells. 1997; 15 Suppl 2:211-30. PMID: 9368307.
      View in: PubMed
    146. Friedman LC, Plon SE, Cooper HP, Weinberg AD. Cancer genetics--survey of primary care physicians' attitudes and practices. J Cancer Educ. 1997; 12(4):199-203. PMID: 9440010.
      View in: PubMed
    147. Field LL, Tobias R, Thomson G, Plon S. Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics. 1996 Apr 1; 33(1):1-8. PMID: 8617492.
      View in: PubMed
    148. Mooney E, Plon SE. Terasaki plates streamline dideoxy sequencing. Biotechniques. 1995 May; 18(5):812. PMID: 7619485.
      View in: PubMed
    149. Russell KJ, Wiens LW, Demers GW, Galloway DA, Plon SE, Groudine M. Abrogation of the G2 checkpoint results in differential radiosensitization of G1 checkpoint-deficient and G1 checkpoint-competent cells. Cancer Res. 1995 Apr 15; 55(8):1639-42. PMID: 7712467.
      View in: PubMed
    150. Plon SE, Leppig KA, Do HN, Groudine M. Cloning of the human homolog of the CDC34 cell cycle gene by complementation in yeast. Proc Natl Acad Sci U S A. 1993 Nov 15; 90(22):10484-8. PMID: 8248134; PMCID: PMC47801.
    151. Plon SE, Groudine M. Unravelling immunoglobulin expression. Curr Biol. 1991 Feb; 1(1):13-4. PMID: 15336193.
      View in: PubMed
    152. Helman LJ, Sack N, Plon SE, Israel MA. The sequence of an adrenal specific human cDNA, pG2. Nucleic Acids Res. 1990 Feb 11; 18(3):685. PMID: 2308864; PMCID: PMC333507.
    153. Courey AJ, Plon SE, Wang JC. The use of psoralen-modified DNA to probe the mechanism of enhancer action. Cell. 1986 May 23; 45(4):567-74. PMID: 3011273.
      View in: PubMed
    154. Plon SE, Wang JC. Transcription of the human beta-globin gene is stimulated by an SV40 enhancer to which it is physically linked but topologically uncoupled. Cell. 1986 May 23; 45(4):575-80. PMID: 3011274.
      View in: PubMed
    155. Solomon EI, Eickman NC, Himmelwright RS, Hwang YT, Plon SE, Wilcox DE. The nature of the binuclear copper site in Limulus and other hemocyanins. Prog Clin Biol Res. 1982; 81:189-230. PMID: 6289350.
      View in: PubMed
    PLON's Networks
    Click the "See All" links for more information and interactive visualizations!
    Concepts Expand Description
    _
    Co-Authors Expand Description
    _
    Similar People Expand Description
    _
    Same Department Expand Description
    Physical Neighbors Expand Description
    _