SHARONPLONSHARON PLON0.000000000000000.000000000000003410PLON, SHARONcancer genetics, genetic testing, medical genetics, genomic instability, clinical genomics0000-0002-9626-0936Dr. Sharon Plon is a board-certified medical geneticist and a longstanding cancer genetics researcher identifying new cancer susceptibility genes and stuyding the implementation of genomic testing in medicine. Dr. Plon holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor College of Medicine. Dr. Plon served as PI with Donald (Will) Parsons and Amy McGuire on the NHGRI/NCI- U01 Texas KidsCanSeq multi-institutional trial that studied the incorporation of CLIA clinical genome-scale exome sequencing into the care of childhood cancer patients in the diverse patient populations in Texas. Since 2013, Dr. Plon has served as one of the Principal Investigators of the Clinical Genome (ClinGen) Resource and co-chairs the ClinGen hereditary cancer effort. She also currently co-chairs the germline reporting effort of the national NCI/COG Pediatric MATCH Precision Oncology trial. She is also working closely with Dr. Philip Lupo on a population-based study to understand the association between birth defects and cancer risk in children. Dr. Plon recently served on the Board of Directors of the American Society of Human Genetics and was a member of the Human Genome Research Advisory Council of the National Human Genome Research Institute from 2017-2020. She is the Assistant Dean of Dual Degree Programs and Pathways in the School of Medicine at Baylor College of Medicine.Professorplugins:TwitterTwitterprns:awardConferredByaward conferred byprns:coAuthorOfcoauthor ofprns:endDateend dateFaculty Rankprns:fullNamefull nameprns:grantAwardedBygrant awarded byprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:principalInvestigatorNameprincipal investigator nameprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:startDatestart dateprns:trainingAtOrganizationeducational organizationprns:trainingLocationtraining locationprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provinceAgreementvivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipvivo:awardOrHonorawards and honorsAward or Honor Receiptvivo:degreeEarneddegree earnedDepartmentDivisionvivo:educationalTrainingeducation and trainingEducational Trainingvivo:freetextKeywordkeywordsGrantvivo:hasMemberRolemember ofvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:majorFieldmajor field of degreeMember Rolevivo:memberRoleOfmember role ofvivo:orcidIdORCID idvivo:overviewoverviewvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst nameGroupfoaf:lastNamelast nameOrganizationPerson25326635Yang 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 CMJAMAMolecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.JAMA2014-11-12T00:00:002014Molecular findings among patients referred for clinical whole-exome sequencing.25482530Bainbridge 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, Gliogene ConsortiumJournal of the National Cancer InstituteGermline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.J Natl Cancer Inst2014-12-07T00:00:002014Germline mutations in shelterin complex genes are associated with familial glioma.25360585Peters 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, L?pez-Terrada D, Parsons DW, Roy AModern pathology : an official journal of the United States and Canadian Academy of Pathology, IncBCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86.Mod Pathol2014-10-31T00:00:002014BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.Authorship 832382Authorship 839228SARAHSCOLLONSARAH SCOLLON8216SCOLLON, SARAHAssistant Professor25652157Jalali 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 MLScientific reportsTargeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.Sci Rep2015-02-05T00:00:002015Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium.Authorship 906184Authorship 971177Authorship 988484Authorship 10141711Authorship 1585318Authorship 1150463Authorship 1587081425809884Lupo 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 JDCancer medicineFamily 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.Cancer Med2015-03-23T00:00:002015Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database.Authorship 174051Authorship 18852Authorship 215861Authorship 217562Authorship 1611011225223899Alderfer 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 KECancerParent decision-making around the genetic testing of children for germline TP53 mutations. Cancer. 2015 Jan 15; 121(2):286-93.Cancer2014-09-15T00:00:002014Parent decision-making around the genetic testing of children for germline TP53 mutations.Authorship 295799Authorship 16309511LeukemiaMD AndersonHAGOP MKANTARJIANHAGOP M KANTARJIAN8501KANTARJIAN, HAGOP MProfessorAuthorship 425024Authorship 48236Authorship 588111Authorship 619938Authorship 8116716Authorship 81256Authorship 8375283011274Plon SE, Wang JCCellTranscription 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.Cell1986-05-23T00:00:001986Transcription of the human beta-globin gene is stimulated by an SV40 enhancer to which it is physically linked but topologically uncoupled.3011273Courey AJ, Plon SE, Wang JCCellThe use of psoralen-modified DNA to probe the mechanism of enhancer action. Cell. 1986 May 23; 45(4):567-74.Cell1986-05-23T00:00:001986The use of psoralen-modified DNA to probe the mechanism of enhancer action.6289350Solomon EI, Eickman NC, Himmelwright RS, Hwang YT, Plon SE, Wilcox DEProgress in clinical and biological researchThe nature of the binuclear copper site in Limulus and other hemocyanins. Prog Clin Biol Res. 1982; 81:189-230.Prog Clin Biol Res1982-01-01T00:00:001982The nature of the binuclear copper site in Limulus and other hemocyanins.7712467Russell KJ, Wiens LW, Demers GW, Galloway DA, Plon SE, Groudine MCancer researchAbrogation 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.Cancer Res1995-04-15T00:00:001995Abrogation of the G2 checkpoint results in differential radiosensitization of G1 checkpoint-deficient and G1 checkpoint-competent cells.9150156Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SEAmerican journal of human geneticsScreening for 185delAG in the Ashkenazim. Am J Hum Genet. 1997 May; 60(5):1085-98.Am J Hum Genet1997-05-01T00:00:001997Screening for 185delAG in the Ashkenazim.9154802Pati D, Keller C, Groudine M, Plon SEMolecular and cellular biologyReconstitution 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.Mol Cell Biol1997-06-01T00:00:001997Reconstitution of a MEC1-independent checkpoint in yeast by expression of a novel human fork head cDNA.8248134Plon SE, Leppig KA, Do HN, Groudine MProceedings of the National Academy of Sciences of the United States of AmericaCloning 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.Proc Natl Acad Sci U S A1993-11-15T00:00:001993Cloning of the human homolog of the CDC34 cell cycle gene by complementation in yeast.26822237Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, L?pez-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 SEJAMA oncologyDiagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 May 01; 2(5):616-624.JAMA Oncol2016-05-01T00:00:002016Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.26906009Saliba J, Zabriskie R, Ghosh R, Powell BC, Hicks S, Kimmel M, Meng Q, Ritter DI, Wheeler DA, Gibbs RA, Tsai FT, Plon SEPharmacogenetics and genomicsPharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenet Genomics. 2016 06; 26(6):271-9.Pharmacogenet Genomics2016-06-01T00:00:002016Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.Authorship 29387811Authorship 2967075Authorship 2975341Authorship 2994518Authorship 29972011Authorship 3003208Authorship 30063820Authorship 3021537Authorship 3028488Authorship 30502111Authorship 305865825569436Ritter DI, Haines K, Cheung H, Davis CF, Lau CC, Berg JS, Brown CW, Thompson PA, Gibbs R, Wheeler DA, Plon SEGenetics in medicine : official journal of the American College of Medical GeneticsIdentifying 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.Genet Med2015-01-08T00:00:002015Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.25856668Goodenberger 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 NMGenetics in medicine : official journal of the American College of Medical GeneticsPMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9.Genet Med2015-04-09T00:00:002015PMS2 monoallelic mutation carriers: the known unknown.25921221Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely ASHepatology (Baltimore, Md.)Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec; 62(6):1914-6.Hepatology2015-06-19T00:00:002015Hepatocellular carcinoma associated with tight-junction protein 2 deficiency.26014595Rehm 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, ClinGenThe New England journal of medicineClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42.N Engl J Med2015-05-27T00:00:002015ClinGen--the Clinical Genome Resource.26142422Shirts 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 CLJournal of the American Medical Informatics Association : JAMIACSER 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.J Am Med Inform Assoc2015-07-03T00:00:002015CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.26300670Plon SECurrent oncology (Toronto, Ont.)BRCA1/2 population screening: embracing the benefits. Curr Oncol. 2015 Aug; 22(4):e230-1.Curr Oncol2015-08-01T00:00:002015BRCA1/2 population screening: embracing the benefits.26320870Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJThe Journal of molecular diagnostics : JMDA Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. J Mol Diagn. 2015 Sep; 17(5):545-53.J Mol Diagn2015-09-01T00:00:002015A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.26479562Scollon S, Bergstrom K, McCullough LB, McGuire AL, Gutierrez S, Kerstein R, Parsons DW, Plon SEThe Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & EthicsPediatric 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.J Law Med Ethics2015-01-01T00:00:002015Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.26505993McCullough LB, Slashinski MJ, McGuire AL, Street RL, Eng CM, Gibbs RA, Parsons DW, Plon SEPediatric blood & cancerIs 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.Pediatr Blood Cancer2015-10-27T00:00:002015Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.26573325Roy 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 DWNature communicationsRecurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 Nov 17; 6:8891.Nat Commun2015-11-17T00:00:002015Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney.26590952Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, Plon SE, Clinical Sequencing Exploratory Research Consortium Tumor Working GroupJournal of the National Cancer InstituteGermline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst. 2016 Apr; 108(4).J Natl Cancer Inst2015-11-20T00:00:002015Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.10190923Keller C, Keller KR, Shew SB, Plon SEThe Journal of pediatricsGrowth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr; 134(4):472-9.J Pediatr1999-04-01T00:00:001999Growth deficiency and malnutrition in Bloom syndrome.11694586Cabello OA, Eliseeva E, He WG, Youssoufian H, Plon SE, Brinkley BR, Belmont JWMolecular biology of the cellCell cycle-dependent expression and nucleolar localization of hCAP-H. Mol Biol Cell. 2001 Nov; 12(11):3527-37.Mol Biol Cell2001-11-01T00:00:002001Cell cycle-dependent expression and nucleolar localization of hCAP-H.10373550Pati D, Meistrich ML, Plon SEMolecular and cellular biologyHuman Cdc34 and Rad6B ubiquitin-conjugating enzymes target repressors of cyclic AMP-induced transcription for proteolysis. Mol Cell Biol. 1999 Jul; 19(7):5001-13.Mol Cell Biol1999-07-01T00:00:001999Human Cdc34 and Rad6B ubiquitin-conjugating enzymes target repressors of cyclic AMP-induced transcription for proteolysis.11861392Shohet JM, Hicks MJ, Plon SE, Burlingame SM, Stuart S, Chen SY, Brenner MK, Nuchtern JGCancer researchMinichromosome maintenance protein MCM7 is a direct target of the MYCN transcription factor in neuroblastoma. Cancer Res. 2002 Feb 15; 62(4):1123-8.Cancer Res2002-02-15T00:00:002002Minichromosome maintenance protein MCM7 is a direct target of the MYCN transcription factor in neuroblastoma.10819532Plon SEJournal of mammary gland biology and neoplasiaScreening and clinical implications for BRCA1 and BRCA2 mutation carriers. J Mammary Gland Biol Neoplasia. 1998 Oct; 3(4):377-87.J Mammary Gland Biol Neoplasia1998-10-01T00:00:001998Screening and clinical implications for BRCA1 and BRCA2 mutation carriers.11336456Friedman LC, Webb JA, Richards CS, Lynch GR, Kaplan AL, Brunicardi FC, Plon SEGenetics in medicine : official journal of the American College of Medical GeneticsPsychological impact of receiving negative BRCA1 mutation test results in Ashkenazim. Genet Med. 1999 Mar-Apr; 1(3):74-9.Genet Med1999-03-01T00:00:001999Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim.11339650Plon SE, Peterson LE, Friedman LC, Richards CSGenetics in medicine : official journal of the American College of Medical GeneticsMammography 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.Genet Med2000-11-01T00:00:002000Mammography behavior after receiving a negative BRCA1 mutation test result in the Ashkenazim: a community-based study.11471165Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SEAmerican journal of medical geneticsClinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001 Jul 22; 102(1):11-7.Am J Med Genet2001-07-22T00:00:002001Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.14576407Levy-Lahad E, Plon SEScience (New York, N.Y.)Cancer. A risky business--assessing breast cancer risk. Science. 2003 Oct 24; 302(5645):574-5.Science2003-10-24T00:00:002003Cancer. A risky business--assessing breast cancer risk.27181682Green RC, Goddard KAB, 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, CSER ConsortiumAmerican journal of human geneticsClinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066.Am J Hum Genet2016-05-12T00:00:002016Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.27132463Hingorani 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 DRCancer geneticsCurrent state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop. Cancer Genet. 2016 05; 209(5):182-94.Cancer Genet2016-04-05T00:00:002016Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.15336193Plon SE, Groudine MCurrent biology : CBUnravelling immunoglobulin expression. Curr Biol. 1991 Feb; 1(1):13-4.Curr Biol1991-02-01T00:00:001991Unravelling immunoglobulin expression.27171546Bowdin 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 IDGenetics in medicine : official journal of the American College of Medical GeneticsRecommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.Genet Med2016-05-12T00:00:002016Recommendations for the integration of genomics into clinical practice.74Professor10Assistant Professor54Instructor14Associate Professor42Director6Adjunct Professor27354474Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MMJournal of clinical oncology : official journal of the American Society of Clinical OncologyShorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group. J Clin Oncol. 2016 11 01; 34(31):3766-3772.J Clin Oncol2016-11-01T00:00:002016Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.Authorship 31687332Authorship 31687446Authorship 31687532Authorship 3168766Authorship 31687735Authorship 31687812Baylor College of Medicine20142013Baylor Research Advocates for Student Scientists Mentor of the Year AwardBaylor College of Medicine20122011Barbara and Corbin J. Robertson, Jr. Presidential Award for Excellence in EducationBaylor College of Medicine20072006Fulbright & Jaworski L.L.P. Faculty Excellence Award in Teaching and EvaluationTexas Children's Hospital20072006Texas Children’s Cancer Center & Hematology Service Faculty Education AwardBaylor College of Medicine20012000Award for Excellence in Teaching and the Pursuit of Research, Department of Pediatrics27181684Amendola 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 HLAmerican journal of human geneticsPerformance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 06 02; 98(6):1067-1076.Am J Hum Genet2016-05-12T00:00:002016Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.1102 BATESHouston, 77030TX27427983van 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 GThe Journal of clinical investigationDestabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92.J Clin Invest2016-07-18T00:00:002016Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.27330550Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man TK, Plon SE, Gibbs RA, Lau CCSource code for biology and medicineSV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code Biol Med. 2016; 11:8.Source Code Biol Med2016-06-18T00:00:002016SV-STAT accurately detects structural variation via alignment to reference-based assemblies.12808094Scott KL, Plon SEMolecular and cellular biologyLoss 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.Mol Cell Biol2003-07-01T00:00:002003Loss of Sin3/Rpd3 histone deacetylase restores the DNA damage response in checkpoint-deficient strains of Saccharomyces cerevisiae.Medicine-Epidemiology & Populat Sci12108833Barnes-Kedar IM, Plon SEObstetrics and gynecology clinics of North AmericaCounseling the at risk patient in the BRCA1 and BRCA2 Era. Obstet Gynecol Clin North Am. 2002 Jun; 29(2):341-66, vii.Obstet Gynecol Clin North Am2002-06-01T00:00:002002Counseling the at risk patient in the BRCA1 and BRCA2 Era.Authorship 32020723Authorship 32087618Authorship 3219156Authorship 32193425Authorship 3236531116567172Vasudevan SA, Patel JC, Wesson DE, Plon SE, Finegold MJ, Nuchtern JGJournal of pediatric surgerySevere dysplasia in children with familial adenomatous polyposis: rare or simply overlooked? J Pediatr Surg. 2006 Apr; 41(4):658-61.J Pediatr Surg2006-04-01T00:00:002006Severe dysplasia in children with familial adenomatous polyposis: rare or simply overlooked?26633545Posey 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 SEGenetics in medicine : official journal of the American College of Medical GeneticsMolecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.Genet Med2015-12-03T00:00:002015Molecular diagnostic experience of whole-exome sequencing in adult patients.26888176Gomez-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 DDNature communicationsMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.Nat Commun2016-02-18T00:00:002016Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.27121965Rustagi N, Hampton OA, Li J, Xi L, Gibbs RA, Plon SE, Kimmel M, Wheeler DABMC bioinformaticsITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. 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Genet Med. 2017 05; 19(5):575-582.Genet Med2016-11-03T00:00:002016A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.27959697Posey 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 JRThe New England journal of medicineResolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.N Engl J Med2016-12-07T00:00:002016Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.28010789Heikamp EB, Parsons DW, Plon SEThe Journal of pediatrics50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders. 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Hum Mutat. 2018 11; 39(11):1542-1552.Hum Mutat2018-11-01T00:00:002018Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.30311373Popejoy AB, Ritter DI, Crooks K, Currey E, Fullerton SM, Hindorff LA, Koenig B, Ramos EM, Sorokin EP, Wand H, Wright MW, Zou J, Gignoux CR, Bonham VL, Plon SE, Bustamante CD, Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG)Human mutationThe clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. 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Hum Mutat. 2019 01; 40(1):73-89.Hum Mutat2018-11-08T00:00:002018Framework for microRNA variant annotation and prioritization using human population and disease datasets.2015-06-30NIHPLON, SHARON E.2010-07-01Genomic Approaches to Defining Inherited Basis of Childhood CancerR01CA1388362019-06-30NIHBUSTAMANTE, CARLOS DANIEL2013-09-23Clinically Relevant Genome Variation DatabaseU01HG0074362022-05-31NIHPLON, SHARON E.2011-12-05Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: The KidsCanSeq StudyU01HG0064852021-07-31NIHMONTINE, THOMAS J2017-09-12Clinical Genome Resource (ClinGen)U41HG0096492020-06-30NIHPLON, SHARON E.1977-07-01Medical Scientist Training ProgramT32GM0073302005-04-30NIHPLON, SHARON EMMA1998-05-01ALTERNATIVE DNA DAMAGE CHECKPOINT PATHWAYS IN EUKARYOTESR01GM0572462005-06-30NIHPLON, SHARON EMMA1995-07-01MOLECULAR ANALYSIS OF FANCONI'S ANEMIA C PROTEINR01HL0521382012-04-30NIHPLON, SHARON E.2007-05-10Do Physicians Understand Uncertain Variants and Other Genetic Test Results?R01HG004064Principal InvestigatorPrincipal InvestigatorCo-Principal InvestigatorPrincipal InvestigatorPrincipal InvestigatorPrincipal InvestigatorPrincipal InvestigatorCo-Principal InvestigatorDepartment of MedicineDepartment of PediatricsDepartment of Molecular & Human GeneticsHuman Genome Sequencing CenterHuman Genome Sequencing CenterMedicine-Athero & LipoproteinsMolecular & Human GeneticsPediatrics-OncologyBaylor College of MedicineKARENRABINKAREN RABIN0.000000000000000.000000000000001020RABIN, KARENProfessorDONALDPARSONSDONALD PARSONS0.000000000000000.000000000000001458PARSONS, DONALD0000-0002-8775-3501ProfessorTERZAHHORTONTERZAH HORTON0.000000000000000.000000000000002063HORTON, TERZAHAssociate ProfessorERICBOERWINKLEERIC BOERWINKLE0.000000000000000.000000000000002653BOERWINKLE, ERICAdjunct ProfessorMURALICHINTAGUMPALAMURALI CHINTAGUMPALA0.000000000000000.000000000000003240CHINTAGUMPALA, MURALIProfessorJUDITHMARGOLINJUDITH MARGOLIN0.000000000000000.000000000000003099MARGOLIN, JUDITHAssociate ProfessorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorRICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service Professor111groups4.592180.00167227786research areas3.191150.0124901161coauthor of195.77831.33660similar to11226selected publicationsPHILIPLUPOPHILIP LUPO29.70508570000000-95.401808700000004333LUPO, PHILIP0000-0003-0978-5863ProfessorAuthorship 9436491330504931Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJGenetics in medicine : official journal of the American College of Medical GeneticsClinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. Genet Med. 2019 07; 21(7):1497-1506.Genet Med2018-12-03T00:00:002018Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.Authorship 9443401030977242Haines K, Sarabia SF, Alvarez KR, Tomlinson G, Vasudevan SA, Heczey AA, Roy A, Finegold MJ, Parsons DW, Plon SE, L?pez-Terrada DPediatric blood & cancerCharacterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation. Pediatr Blood Cancer. 2019 07; 66(7):e27745.Pediatr Blood Cancer2019-04-11T00:00:002019Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation.Authorship 946281431050187Agrusa JE, Bertuch AA, DiNardo CD, Plon SE, Eckstein OSPediatric blood & cancerSevere therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres. Pediatr Blood Cancer. 2019 08; 66(8):e27779.Pediatr Blood Cancer2019-05-02T00:00:002019Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.Authorship 12735639Authorship 12795911Authorship 1292192024013638Shah 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 S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, 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 K, 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 KNature geneticsA recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231.Nat Genet2013-09-08T00:00:002013A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.24071794Tarczy-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 YGenetics in medicine : official journal of the American College of Medical GeneticsA 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.Genet Med2013-09-26T00:00:002013A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.24088041Yang 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 CMThe New England journal of medicineClinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.N Engl J Med2013-10-02T00:00:002013Clinical whole-exome sequencing for the diagnosis of mendelian disorders.Authorship 947340131082280Plon SE, Lupo PJAnnual review of genomics and human geneticsGenetic Predisposition to Childhood Cancer in the Genomic Era. Annu Rev Genomics Hum Genet. 2019 08 31; 20:241-263.Annu Rev Genomics Hum Genet2019-05-13T00:00:002019Genetic Predisposition to Childhood Cancer in the Genomic Era.Authorship 948981731186522Malek J, Pereira S, Robinson JO, Gutierrez AM, Slashinski MJ, Parsons DW, Plon SE, McGuire ALGenetics in medicine : official journal of the American College of Medical GeneticsResponsibility, culpability, and parental views on genomic testing for seriously ill children. Genet Med. 2019 12; 21(12):2791-2797.Genet Med2019-06-12T00:00:002019Responsibility, culpability, and parental views on genomic testing for seriously ill children.Baylor College of Medicine2018Kenneth Scott Mentor AwardMemorial Sloan Kettering Cancer Center201911th annual Niehaus, Southworth, Weissenbach Award in Clinical Cancer GeneticsAuthorship 9496202631219523Lupo PJ, Schraw JM, Desrosiers TA, Nembhard WN, Langlois PH, Canfield MA, Copeland G, Meyer RE, Brown AL, Chambers TM, Sok P, Danysh HE, Carozza SE, Sisoudiya SD, Hilsenbeck SG, Janitz AE, Oster ME, Scheuerle AE, Schiffman JD, Luo C, Mian A, Mueller BA, Huff CD, Rasmussen SA, Scheurer ME, Plon SEJAMA oncologyAssociation Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births. 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Proc Natl Acad Sci U S A. 2019 10 22; 116(43):21715-21726.Proc Natl Acad Sci U S A2019-10-07T00:00:002019Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors.Authorship 9573951131624068Lindsay H, Scollon S, Reuther J, Voicu H, Rednam SP, Lin FY, Fisher KE, Chintagumpala M, Adesina AM, Parsons DW, Plon SE, Roy ACold Spring Harbor molecular case studiesGermline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. Cold Spring Harb Mol Case Stud. 2019 10; 5(5).Cold Spring Harb Mol Case Stud2019-10-23T00:00:002019Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.Authorship 1083013Authorship 9577616Authorship 9578103031648317Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LABlood advancesClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. 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J Natl Cancer Inst. 2021 07 01; 113(7):875-883.J Natl Cancer Inst2021-07-01T00:00:002021Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.Authorship 1150866Authorship 1167805Authorship 10200813Authorship 10202741234086347Ting MA, Reuther J, Chandramohan R, Voicu H, Gandhi I, Liu M, Cortes-Santiago N, Foster JH, Hicks J, Nuchtern J, Scollon S, Plon SE, Chintagumpala M, Rainusso N, Roy A, Parsons DWThe Journal of pathologyGenomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood. J Pathol. 2021 09; 255(1):52-61.J Pathol2021-07-07T00:00:002021Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.34065162Martin-Giacalone BA, Weinstein PA, Plon SE, Lupo PJJournal of clinical medicinePediatric Rhabdomyosarcoma: Epidemiology and Genetic Susceptibility. J Clin Med. 2021 May 09; 10(9).J Clin Med2021-05-09T00:00:002021Pediatric Rhabdomyosarcoma: Epidemiology and Genetic Susceptibility.Authorship 1024312934207141Hsu RL, Gutierrez AM, Schellhammer SK, Robinson JO, Scollon S, Street RL, Salisbury AN, Pereira S, Plon SE, Malek J, Parsons DW, McGuire ALJournal of personalized medicinePediatric Oncologists' Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care. 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JCO Precis Oncol. 2021; 5.JCO Precis Oncol2021-07-28T00:00:002021Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling.true1InstructorInstructorAuthorship 1034354134793247Plon SEJournal of clinical oncology : official journal of the American Society of Clinical OncologyImportance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders. J Clin Oncol. 2022 01 01; 40(1):5-7.J Clin Oncol2021-11-18T00:00:002021Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders.Authorship 1182045Authorship 1190574Authorship 10373031735026696Garcia A, Desrosiers L, Scollon S, Gruner S, Reuther J, Gandhi I, Patil N, Fuller MY, Dai H, Muzny D, Gibbs RA, Bercaw-Pratt JL, Rao SL, Rainusso N, Fisher KE, Lin FY, Plon SE, Parsons DW, Roy ACancer geneticsDistinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 04; 262-263:53-56.Cancer Genet2022-01-05T00:00:002022Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.true1ProfessorProfessorAuthorship 10385904Authorship 103919140Authorship 104005132Authorship 1041462235039090Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O'Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA, Clinical Genome Resource (ClinGen)Genome medicineClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Genome Med. 2022 01 18; 14(1):6.Genome Med2022-01-18T00:00:002022ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.35306447Tallis E, Scollon S, Ritter DI, Plon SECancer geneticsEvolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 06; 264-265:29-32.Cancer Genet2022-03-03T00:00:002022Evolution of germline TP53 variant classification in children with cancer.35101336Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin DGenetics in medicine : official journal of the American College of Medical GeneticsStandards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 05; 24(5):986-998.Genet Med2022-01-29T00:00:002022Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).35245469Leppig KA, Plon SE, Milewicz DM, Levy-Lahad E, Jarvik GPAmerican journal of human geneticsThe annual ASHG dinner. Am J Hum Genet. 2022 03 03; 109(3):377-378.Am J Hum Genet2022-03-03T00:00:002022The annual ASHG dinner.35487348Chandramohan R, Reuther J, Gandhi I, Voicu H, Alvarez KR, Plon SE, Lopez-Terrada DH, Fisher KE, Parsons DW, Roy AThe Journal of molecular diagnostics : JMDA Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels. J Mol Diagn. 2022 07; 24(7):760-774.J Mol Diagn2022-04-26T00:00:002022A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels.Authorship 10447206Authorship 1364915Authorship 1373741523639901Ramoni RB, McGuire AL, Robinson JO, Morley DS, Plon SE, Joffe SGenetics in medicine : official journal of the American College of Medical GeneticsExperiences and attitudes of genome investigators regarding return of individual genetic test results. Genet Med. 2013 Nov; 15(11):882-7.Genet Med2013-05-02T00:00:002013Experiences and attitudes of genome investigators regarding return of individual genetic test results.24195999Berg 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, Members of the CSER Actionability and Return of Results Working GroupGenetics in medicine : official journal of the American College of Medical GeneticsProcesses 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.Genet Med2013-10-24T00:00:002013Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.Authorship 1046689535622075MacFarland SP, Xie H, Dent MH, Greed B, Plon SE, Scollon SR, Brodeur GM, Howe JRJournal of pediatric gastroenterology and nutritionFOCAD Indel in a Family With Juvenile Polyposis Syndrome. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):56-58.J Pediatr Gastroenterol Nutr2022-06-17T00:00:002022FOCAD Indel in a Family With Juvenile Polyposis Syndrome.Authorship 10479061935713195Scollon S, Eldomery MK, Reuther J, Lin FY, Potter SL, Desrosiers L, McClain KL, Smith V, Su JM, Venkatramani R, Hu J, Korchina V, Zarrin-Khameh N, Gibbs RA, Muzny DM, Eng C, Roy A, Parsons DW, Plon SEPediatric blood & cancerClinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859.Pediatr Blood Cancer2022-06-30T00:00:002022Clinical and molecular features of pediatric cancer patients with Lynch syndrome.true1ProfessorProfessorPediatric-Oncology EPItrue1Assistant ProfessorAssistant ProfessorAuthorship 106254111Authorship 105482043Authorship 10547729Authorship 10626102236600593Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R, ClinGen CDH1 Variant Curation Expert PanelJournal of medical geneticsOptimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. J Med Genet. 2023 06; 60(6):568-575.J Med Genet2022-12-07T00:00:002022Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.36001348MacFarland SP, Maese L, Rednam SP, Kamihara J, Perrino MR, Nichols KE, Brodeur GM, Schiffman JD, Plon SE, Diller LR, Malkin D, Porter CC, Villani ACancer prevention research (Philadelphia, Pa.)Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition. Cancer Prev Res (Phila). 2022 10 04; 15(10):645-652.Cancer Prev Res (Phila)2022-10-04T00:00:002022Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition.36595372Gutierrez AM, Robinson JO, Raesz-Martinez R, Canfield I, Majumder MA, Scollon S, Desrosiers LR, Hsu RL, Allen-Rhoades W, Parsons DW, Plon SE, McGuire AL, Malek JJournal of adolescent and young adult oncologyViews of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research. J Adolesc Young Adult Oncol. 2023 10; 12(5):773-781.J Adolesc Young Adult Oncol2023-01-02T00:00:002023Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research.36063163Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin DGenetics in medicine : official journal of the American College of Medical GeneticsStandards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 Sep; 24(9):1991.Genet Med2022-09-01T00:00:002022Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Authorship 10642111436813544Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WDJournal of medical geneticsGermline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet. 2023 10; 60(10):987-992.J Med Genet2023-02-22T00:00:002023Germline pathogenic SMARCA4 variants in neuroblastoma.true1ProfessorProfessorAuthorship 1068019537115922Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML, Gliogene Consortium, Genomics England Research Consortium, Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki MScience advancesThe genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.Sci Adv2023-04-28T00:00:002023The genomic landscape of familial glioma.Authorship 10703541137194615Fair D, Maese L, Chi YY, Li M, Hawkins DS, Venkatramani R, Rudzinski E, Parham D, Teot L, Malkin D, Plon SE, Li H, Sabo A, Lupo PJ, Schiffman JDPediatric blood & cancerTP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report. Pediatr Blood Cancer. 2023 May 17; e30413.Pediatr Blood Cancer2023-05-17T00:00:002023TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.Authorship 12386637289514Sisoudiya SD, Mishra P, Li H, Schraw JM, Scheurer ME, Salvi S, Doddapaneni H, Muzny D, Mitchell D, Taylor O, Sabo A, Lupo PJ, Plon SEBlood advancesIdentification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575.Blood Adv2023-08-22T00:00:002023Identification of USP9X as a leukemia susceptibility gene.37366624Schraw JM, Sok P, Desrosiers TA, Janitz AE, Langlois PH, Canfield MA, Frazier AL, Plon SE, Lupo PJ, Poynter JNCancerAssociations between birth defects and childhood and adolescent germ cell tumors according to sex, histologic subtype, and site. Cancer. 2023 10 15; 129(20):3300-3308.Cancer2023-06-27T00:00:002023Associations between birth defects and childhood and adolescent germ cell tumors according to sex, histologic subtype, and site.37366551Mangum R, Reuther J, Sen Baksi K, Gandhi I, Zabriskie RC, Recinos A, Raesz-Martinez R, Lin FY, Potter SL, Sher AC, Kralik SF, Mohila CA, Chintagumpala MM, Muzny D, Hu J, Gibbs RA, Fisher KE, Bernini JC, Gill J, Griffin TC, Tomlinson GE, Vallance KL, Plon SE, Roy A, Parsons DWPediatric hematology and oncologyCirculating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023; 40(8):719-738.Pediatr Hematol Oncol2023-06-27T00:00:002023Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.Authorship 107258713Authorship 10725868Authorship 10725662306/1987Harvard Medical SchoolBoston, MAHarvard Medical School, MedicineMDMedicine06/1987Harvard UniverityCambridge, MAHarvard Univerity, BiophysicsPhDBiophysicshttps://www.texaschildrens.org/find-a-doctor/sharon-e-plon-md-phd-facmgTexas Children's Hospital ProfileAuthorship 191265Authorship 108027829Authorship 1080519637800450Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capell? G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S, InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert PanelGenetics in medicine : official journal of the American College of Medical GeneticsGene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 Feb; 26(2):100992.Genet Med2023-10-04T00:00:002023Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.37788149Connolly GK, Harris RD, Shumate C, Rednam SP, Canfield MA, Plon SE, Nguyen J, Schraw JM, Lupo PJCancerPediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children. Cancer. 2024 02 01; 130(3):467-475.Cancer2023-10-03T00:00:002023Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children.true1Associate ProfessorAssociate ProfessorAuthorship 1083273137937782Plon S, Jarvik GThe New England journal of medicineTen Years of Incidental, Secondary, and Actionable Findings. N Engl J Med. 2023 Nov 09; 389(19):1813-1814.N Engl J Med2023-11-09T00:00:002023Ten Years of Incidental, Secondary, and Actionable Findings.Authorship 212815Authorship 10841648Authorship 1083826638007624Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC, Global Alliance for Genomics and Health Regulatory and Ethics WorkstreamGenetics in medicine : official journal of the American College of Medical GeneticsShould secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child? Genet Med. 2024 Feb; 26(2):101033.Genet Med2023-11-23T00:00:002023Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?37961416Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SEmedRxiv : the preprint server for health sciencesCombined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity. medRxiv. 2023 Nov 01.medRxiv2023-11-01T00:00:002023Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.Authorship 179354Authorship 10872791438225886Vuocolo B, Gutierrez AM, Robinson JO, Recinos AM, Desrosiers LR, Majumder MA, Bernini JC, Gill J, Griffin T, Tomlinson GE, Vallance K, McGuire AL, Parsons DW, Plon SE, Scollon SJournal of genetic counselingFamilies' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle". J Genet Couns. 2024 Jan 15.J Genet Couns2024-01-15T00:00:002024Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle".Authorship 10896041038411636Kratz CP, Lupo PJ, Zelley K, Schienda J, Nichols KE, Stewart DR, Malkin D, Brodeur GM, Maxwell K, Plon SE, Walsh MFClinical cancer research : an official journal of the American Association for Cancer ResearchAdult-onset cancer predisposition syndromes in children and adolescents - to test or not to test? Clin Cancer Res. 2024 Feb 27.Clin Cancer Res2024-02-27T00:00:002024Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?Authorship 192482true1ProfessorProfessorAuthorship 255665Authorship 260205Authorship 2095314Authorship 249431Authorship 302711Authorship 252244Authorship 329352Authorship 241807Authorship 348633Authorship 370624Authorship 396043Authorship 4350310Authorship 1431743Authorship 1432501124620872Eng CM, Yang Y, Plon SEThe New England journal of medicineGenetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068.N Engl J Med2014-03-13T00:00:002014Genetic diagnosis through whole-exome sequencing.24696430Hill 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 DMBreast cancer research and treatmentLong-term risk of medical conditions associated with breast cancer treatment. Breast Cancer Res Treat. 2014 May; 145(1):233-43.Breast Cancer Res Treat2014-04-03T00:00:002014Long-term risk of medical conditions associated with breast cancer treatment.Authorship 336434Authorship 1434236Authorship 1434242Authorship 1434257Authorship 492881424077424McGuire AL, Robinson JO, Ramoni RB, Morley DS, Jofe S, Plon SEPersonalized medicineReturning genetic research results: study type matters. Per Med. 2013 Jan; 10(1):27-34.Per Med2013-01-01T00:00:002013Returning genetic research results: study type matters.7619485Mooney E, Plon SEBioTechniquesTerasaki plates streamline dideoxy sequencing. Biotechniques. 1995 May; 18(5):812.Biotechniques1995-05-01T00:00:001995Terasaki plates streamline dideoxy sequencing.19921428Spurdle AB, Fahey P, Chen X, McGuffog L, kConFab, Easton D, Peock S, Cook M, EMBRACE, Simard J, INHERIT, Rebbeck TR, MAGIC, Antoniou AC, Chenevix-Trench GBreast cancer research and treatmentPooled 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.Breast Cancer Res Treat2009-11-18T00:00:002009Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.Authorship 498244Authorship 372893Authorship 373594Authorship 377494Authorship 4121310Authorship 584843Authorship 1469291824791903Xia 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 RAAmerican journal of human geneticsDe novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.Am J Hum Genet2014-05-01T00:00:002014De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.Authorship 590237Authorship 438045Authorship 452482Authorship 479452Authorship 652007Authorship 149023324958819Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AMJournal of clinical oncology : official journal of the American Society of Clinical OncologyClinical 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.J Clin Oncol2014-06-23T00:00:002014Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.Authorship 533962Authorship 750793Authorship 5435410Authorship 547611Authorship 822796Authorship 618065Authorship 1530811325317207Scollon 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 DWGenome medicineObtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Med. 2014; 6(9):69.Genome Med2014-09-17T00:00:002014Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.Authorship 6364111Authorship 657237Authorship 915001Authorship 659861Authorship 666351Authorship 966309Authorship 721648Authorship 728757Authorship 734271Authorship 7848312Authorship 76817Authorship 15582412Authorship 15627335