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SHARON PLON

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1102 BATES
ORCID ORCID Icon0000-0002-9626-0936 Additional info
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentHuman Genome Sequencing Center
    DivisionHuman Genome Sequencing Center


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    Collapse Biography 
    Collapse education and training
    Harvard Medical School, Boston, MAMD06/1987Medicine
    Harvard Univerity, Cambridge, MAPhD06/1987Biophysics
    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 - 2007Texas Children’s Cancer Center & Hematology Service Faculty Education Award, Texas Children's Hospital
    2006 - 2007Fulbright & Jaworski L.L.P. Faculty Excellence Award in Teaching and Evaluation, Baylor College of Medicine
    2000 - 2001Award for Excellence in Teaching and the Pursuit of Research, Department of Pediatrics, Baylor College of Medicine
    2018Kenneth Scott Mentor Award, Baylor College of Medicine
    201911th annual Niehaus, Southworth, Weissenbach Award in Clinical Cancer Genetics, Memorial Sloan Kettering Cancer Center
    2025Arthur L. Beaudet Outstanding Mentorship Award, Baylor College of Medicine

    Collapse Overview 
    Collapse overview
    Dr. Sharon Plon is a board-certified medical geneticist who holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor College of Medicine in the Departments of Pediatrics and Molecular and Human Genetics and is a member of the Human Genome Sequencing Center. She has a longstanding career as a cancer genetics researcher with a focus on identifying new cancer susceptibility genes and studying the implementation of genomic testing in medicine. Dr. Plon served as Principal Investigator 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 and currently co-chairs the germline reporting effort of the national NCI/COG Pediatric MATCH Precision Oncology trial which incorporated germline testing into a national treatment trial of children with refractory cancer. Since 2013, Dr. Plon has served as one of the Principal Investigators of the Clinical Genome (ClinGen) Resource and co-chairs the Hereditary Cancer Clinical Domain with over ten variant and gene curation expert panels. Most recently, she is leading a new project to explore incorporating cancer susceptibility genes into newborn screening. Dr. Plon is a prior member of the National Advisory Council for Human Genome Research and Board of Directors of American Society of Human Genetics.

    Collapse Research 
    Collapse research activities and funding
    Crazy 8     (Sharon Plon)Feb 3, 2025 - Feb 1, 2029
    Alex’s Lemonade Stand Foundation
    Newborn Screening for Early Childhood Cancer Predisposition Syndromes
    Role Description: Develop the appropriate laboratory methods to support a clinical trial of newborn screening for early childhood cancer predisposition genes.
    Role: Principal Investigator
    RP220218     (Sharon Plon)Mar 1, 2022 - Feb 28, 2026
    Cancer Prevention and Research Institute of Texas
    Role of Germline BRCA Pathway Mutations in Development of Pediatric Cancers
    Role Description: We hypothesize that germline heterozygous LoF variants in BRCA2 (and related BRCA genes) confer a detectable decrease in HR and/or replication stress protection resulting in mutation, including potentially through alternative mutagenic DNA repair pathways in pediatric tumor cells of origin. This results in childhood tumor susceptibility including fusion-negative rhabdomyosarcoma, characterized by genomic instability and increased somatic mutational load.
    Role: Principal Investigator
    T32GM136611     (KING, KATHERINE YUDEH)Jul 1, 2020 - Jun 30, 2030
    NIH
    Medical Scientist Training Program
    Role: Principal Investigator
    U24HG009649     (PLON, SHARON E.)Sep 12, 2017 - Jun 30, 2026
    NIH
    Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)
    Role: Principal Investigator
    U41HG009649     (MONTINE, THOMAS J)Sep 12, 2017 - Jul 31, 2021
    NIH
    Clinical Genome Resource (ClinGen)
    Role: Co-Principal Investigator
    U01HG007436     (BUSTAMANTE, CARLOS DANIEL)Sep 23, 2013 - Jun 30, 2019
    NIH
    Clinically Relevant Genome Variation Database
    Role: Co-Principal Investigator
    U01HG006485     (PLON, SHARON E.)Dec 5, 2011 - May 31, 2022
    NIH
    Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: The KidsCanSeq Study
    Role: Principal Investigator
    R01CA138836     (PLON, SHARON E.)Jul 1, 2010 - Jun 30, 2015
    NIH
    Genomic Approaches to Defining Inherited Basis of Childhood Cancer
    Role: Principal Investigator
    R01HG004064     (PLON, SHARON E.)May 10, 2007 - Apr 30, 2012
    NIH
    Do Physicians Understand Uncertain Variants and Other Genetic Test Results?
    Role: Principal Investigator
    R01GM057246     (PLON, SHARON EMMA)May 1, 1998 - Apr 30, 2005
    NIH
    ALTERNATIVE DNA DAMAGE CHECKPOINT PATHWAYS IN EUKARYOTES
    Role: Principal Investigator
    R01HL052138     (PLON, SHARON EMMA)Jul 1, 1995 - Jun 30, 2005
    NIH
    MOLECULAR ANALYSIS OF FANCONI'S ANEMIA C PROTEIN
    Role: Principal Investigator
    T32GM007330     (PLON, SHARON E.)Jul 1, 1977 - Jun 30, 2020
    NIH
    Medical Scientist Training Program
    Role: Principal Investigator

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    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Ch?vez-Barrios P, Plon SE, Li Z. DNA Assays to Detect and Characterize RB1 Mosaicism in Retinoblastoma. JAMA Ophthalmol. 2025 May 08. PMID: 40338597.
      Citations:    Fields:    
    2. Brodeur GM, Diller LR, Nichols KE, Plon SE, Porter CC, Malkin D. Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions. Clin Cancer Res. 2025 May 06. PMID: 40327330.
      Citations:    Fields:    
    3. Abdelhammed MH, Plon SE, Nuchtern JG, Rainusso NC, Saadeldin AM, Patel KR. Rare Adenoid Variant of Basal Cell Carcinoma in an African American Child With Nevoid Basal Cell Carcinoma Syndrome: Atypical Nodulocystic Presentation. Am J Dermatopathol. 2025 May 02. PMID: 40314658.
      Citations:    Fields:    
    4. Fiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K, Fiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K. Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. Clin Cancer Res. 2025 Apr 14; 31(8):1491-1503. PMID: 39992227; PMCID: PMC11995001.
      Citations:    Fields:    Translation:Humans
    5. Kratz CP, Plon SE, Lupo PJ, Kratz CP, Plon SE, Lupo PJ. RE: Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers. J Natl Cancer Inst. 2025 Apr 01; 117(4):812-813. PMID: 39908475.
      Citations:    Fields:    
    6. Hoang TT, Schraw JM, Shumate C, Desrosiers TA, Nembhard WN, Yazdy M, Nestoridi E, Janitz AE, Kirby RS, Salemi JL, Tanner JP, Chambers TM, Taylor MD, Huff CD, Plon SE, Lupo PJ, Scheurer ME. Co-occurrence of congenital anomalies and childhood brain tumors in 22 million live births. Neuro Oncol. 2025 Mar 26. PMID: 40138258.
      Citations:    Fields:    
    7. Desrosiers-Battu LR, Lee JH, Tarasiewicz I, Gilbert AR, Galvan EM, Singh AK, Roy A, Miles G, Reuther J, Muzny DM, Yuan B, Kulkarni S, Eng C, Scollon S, Gessay S, McGuire AL, Parsons DW, Tomlinson GE, Plon SE, Shah S. Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome. Cancer Genet. 2025 Apr; 292-293:106-110. PMID: 39985924.
      Citations:    Fields:    Translation:Humans
    8. Schraw JM, Tark JY, Desrosiers TA, Chambers TM, Shumate CJ, Nembhard WN, Yazdy MM, Nestoridi E, Malone MFW, Laetsch TW, Widemann BC, Janitz AE, Tanner JP, Kirby RS, Salemi JL, Spector LG, Huff CD, Plon SE, Lupo PJ. Risk of carcinomas among children and adolescents with birth defects. Cancer Epidemiol. 2025 Apr; 95:102748. PMID: 39848200.
      Citations:    Fields:    Translation:Humans
    9. Popejoy AB, Ritter DI, Azzariti D, Berg JS, Bulkley JE, Cho M, Gonzaga-Jauregui C, Klein TE, Martschenko DO, Oni-Orisan A, Ramos EM, Rehm HL, Riggs ER, Wright MW, Yudell M, Plon SE, Morales J. Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource. Am J Hum Genet. 2025 Feb 06; 112(2):215-223. PMID: 39793579; PMCID: PMC11866942.
      Citations:    Fields:    Translation:Humans
    10. Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Using multiplexed functional data to reduce variant classification inequities in underrepresented populations. Genome Med. 2024 Dec 03; 16(1):143. PMID: 39627863; PMCID: PMC11616159.
      Citations: 2     Fields:    Translation:Humans
    11. Haider R, Desrosiers-Battu L, Scollon S, Stankiewicz P, Lupo PJ, Plon SE. A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic. Fam Cancer. 2024 Nov 20; 24(1):8. PMID: 39565446.
      Citations:    Fields:    Translation:Humans
    12. Nakano Y, Kuiper RP, Nichols KE, Porter CC, Lesmana H, Meade J, Kratz CP, Godley LA, Maese LD, Achatz MI, Khincha PP, Savage SA, Doria AS, Greer MC, Chang VY, Wang LL, Plon SE, Walsh MF. Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders. Clin Cancer Res. 2024 Nov 15; 30(22):5009-5020. PMID: 39264246; PMCID: PMC11705613.
      Citations:    Fields:    
    13. MacFarland SP, Becktell K, Schneider KW, Kuiper RP, Lesmana H, Meade J, Nichols KE, Porter CC, Savage SA, Schultz KA, Scott H, States L, Tabori U, Tamura C, Tomlinson G, Zelley K, Durno C, Bauer A, Plon SE, MacFarland SP, Becktell K, Schneider KW, Kuiper RP, Lesmana H, Meade J, Nichols KE, Porter CC, Savage SA, Schultz KA, Scott H, States L, Tabori U, Tomlinson G, Zelley K, Durno C, Bauer A, Plon SE. Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group. Clin Cancer Res. 2024 Oct 15; 30(20):4566-4571. PMID: 39190470.
      Citations: 1     Fields:    Translation:Humans
    14. ClinGen Consortium. Electronic address: splon@bcm.edu, ClinGen Consortium. The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation. Genet Med. 2025 Jan; 27(1):101228. PMID: 39404758; PMCID: PMC11984750.
      Citations: 3     Fields:    Translation:Humans
    15. Maese LD, Wlodarski MW, Kim SY, Bertuch AA, Bougeard G, Chang VY, Godley LA, Khincha PP, Kuiper RP, Lesmana H, McGee RB, McReynolds LJ, Meade J, Plon SE, Savage SA, Scollon SR, Scott HS, Walsh MF, Nichols KE, Porter CC, Maese LD, Wlodarski MW, Kim SY, Bertuch AA, Bougeard G, Chang VY, Godley LA, Khincha PP, Kuiper RP, Lesmana H, McGee RB, McReynolds LJ, Meade J, Plon SE, Savage SA, Scollon SR, Scott HS, Walsh MF, Nichols KE, Porter CC. Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clin Cancer Res. 2024 Oct 01; 30(19):4286-4295. PMID: 39078402; PMCID: PMC11444884.
      Citations: 1     Fields:    Translation:Humans
    16. Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capell? G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443. PMID: 39357517; PMCID: PMC11568752.
      Citations: 2     Fields:    Translation:Humans
    17. Thaxton C, Biesecker LG, DiStefano M, Haendel M, Hamosh A, Owens E, Plon SE, Rehm HL, Berg JS. Implementation of a dyadic nomenclature for monogenic diseases. Am J Hum Genet. 2024 Sep 05; 111(9):1810-1818. PMID: 39241757; PMCID: PMC11393707.
      Citations: 1     Fields:    Translation:Humans
    18. Desrosiers-Battu LR, Wang T, Reuther J, Miles G, Dai H, Jo E, Russell H, Raesz-Martinez R, Recinos A, Gutierrez S, Thomas A, Berenson E, Corredor J, Nugent K, Wyatt Castillo R, Althaus R, Littlejohn R, Gessay S, Tomlinson G, Gill J, Bernini JC, Vallance K, Griffin T, Scollon S, Lin FY, Eng C, Kulkarni S, Hilsenbeck SG, Roy A, McGuire AL, Parsons DW, Plon SE. Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. JCO Precis Oncol. 2024 Sep; 8:e2400187. PMID: 39259914; PMCID: PMC11392521.
      Citations:    Fields:    
    19. Das A, MacFarland SP, Meade J, Hansford JR, Schneider KW, Kuiper RP, Jongmans MCJ, Lesmana H, Schultz KAP, Nichols KE, Durno C, Zelley K, Porter CC, States LJ, Ben-Shachar S, Savage SA, Kalish JM, Walsh MF, Scott HS, Plon SE, Tabori U, Das A, MacFarland SP, Meade J, Hansford JR, Schneider KW, Kuiper RP, Jongmans MCJ, Lesmana H, Schultz KAP, Nichols KE, Durno C, Zelley K, Porter CC, States LJ, Ben-Shachar S, Savage SA, Kalish JM, Walsh MF, Scott HS, Plon SE, Tabori U. Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults. Clin Cancer Res. 2024 Aug 15; 30(16):3378-3387. PMID: 38860976.
      Citations: 1     Fields:    Translation:HumansCells
    20. Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE, Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. Annu Rev Biomed Data Sci. 2024 Aug; 7(1):31-50. PMID: 38663031; PMCID: PMC12001867.
      Citations: 3     Fields:    Translation:Humans
    21. Gutierrez AM, Robinson JO, Smith HS, Desrosiers LR, Scollon SR, Canfield I, Hsu RL, Schneider NM, Parsons DW, Plon SE, Allen-Rhoades W, Majumder MA, Malek J, McGuire AL, Desrosiers-Battu LR. Genomic sequencing research in pediatric cancer care: Decision making, attitudes, and perceived utility among adolescents and young adults and their parents. Genet Med. 2024 Aug; 26(8):101168. PMID: 38767058; PMCID: PMC11534009.
      Citations:    Fields:    Translation:Humans
    22. Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE. Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity. Genet Med Open. 2024; 2:101850. PMID: 39669609; PMCID: PMC11613871.
      Citations: 2     
    23. Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, den Dunnen JT, Hassanin E, Lyman Lin W, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau EAW, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capell? G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases. medRxiv. 2024 May 04. PMID: 38746299; PMCID: PMC11092726.
      Citations:    
    24. Kratz CP, Lupo PJ, Zelley K, Schienda J, Nichols KE, Stewart DR, Malkin D, Brodeur GM, Maxwell K, Plon SE, Walsh MF, Kratz CP, Lupo PJ, Zelley K, Schienda J, Nichols KE, Stewart DR, Malkin D, Brodeur GM, Maxwell K, Plon SE, Walsh MF. Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test? Clin Cancer Res. 2024 May 01; 30(9):1733-1738. PMID: 38411636.
      Citations: 2     Fields:    Translation:Humans
    25. Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Defining and Reducing Variant Classification Disparities. medRxiv. 2024 Apr 12. PMID: 38645101; PMCID: PMC11030469.
      Citations:    
    26. Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ. Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group. JAMA Netw Open. 2024 03 04; 7(3):e244170. PMID: 38546643; PMCID: PMC10979319.
      Citations: 3     Fields:    Translation:HumansCells
    27. Vuocolo 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 S. Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle". J Genet Couns. 2024 Dec; 33(6):1337-1350. PMID: 38225886; PMCID: PMC11247135.
      Citations:    Fields:    
    28. van Karnebeek C, Vears D, Cornel MC, Global Alliance for Genomics and Health Regulatory and Ethics Workstream, Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child? Genet Med. 2024 02; 26(2):101033. PMID: 38007624.
      Citations:    Fields:    Translation:Humans
    29. Plon S, Jarvik G. Ten Years of Incidental, Secondary, and Actionable Findings. N Engl J Med. 2023 Nov 09; 389(19):1813-1814. PMID: 37937782.
      Citations:    Fields:    Translation:Humans
    30. Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE. Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity. medRxiv. 2023 Nov 01. PMID: 37961416; PMCID: PMC10635218.
      Citations:    
    31. Spier I, Yin X, Pineda M, Laner A, Mur P, Hansen TVO, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Baert-Desurmont S, Martins A, Beshay V, Genuardi M, Capell? G, Macrae FA, Aretz S, Richardson M, Ritter D, Boyle J, Shi X, Farrington SM, Yamamoto G, Borras E, Tops C, Webb E, Pesaran T, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Gene-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 02; 26(2):100992. PMID: 37800450; PMCID: PMC10922469.
      Citations: 1     Fields:    Translation:HumansCells
    32. Connolly GK, Harris RD, Shumate C, Rednam SP, Canfield MA, Plon SE, Nguyen J, Schraw JM, Lupo PJ. Pediatric 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. PMID: 37788149.
      Citations:    Fields:    Translation:Humans
    33. Sisoudiya SD, Mishra P, Li H, Schraw JM, Scheurer ME, Salvi S, Doddapaneni H, Muzny D, Mitchell D, Taylor O, Sabo A, Lupo PJ, Plon SE. Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575. PMID: 37289514; PMCID: PMC10425687.
      Citations: 1     Fields:    Translation:Humans
    34. Mangum 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 DW. Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023; 40(8):719-738. PMID: 37366551; PMCID: PMC10592361.
      Citations:    Fields:    Translation:Humans
    35. Schraw JM, Sok P, Desrosiers TA, Janitz AE, Langlois PH, Canfield MA, Frazier AL, Plon SE, Lupo PJ, Poynter JN. Associations 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. PMID: 37366624; PMCID: PMC10967011.
      Citations:    Fields:    Translation:Humans
    36. Fair 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 JD. TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report. Pediatr Blood Cancer. 2023 May 17; e30413. PMID: 37194615; PMCID: PMC10654260.
      Citations: 1     Fields:    
    37. Choi 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 M. The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675. PMID: 37115922; PMCID: PMC10146888.
      Citations: 2     Fields:    Translation:Humans
    38. Witkowski 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 WD. Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet. 2023 10; 60(10):987-992. PMID: 36813544; PMCID: PMC10570933.
      Citations:    Fields:    Translation:Humans
    39. Gutierrez 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 J. Views 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. PMID: 36595372; PMCID: PMC10611971.
      Citations:    Fields:    
    40. Luo 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 Panel. Optimising 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. PMID: 36600593; PMCID: PMC10202836.
      Citations: 1     Fields:    Translation:HumansCells
    41. MacFarland SP, Maese L, Rednam SP, Kamihara J, Perrino MR, Nichols KE, Brodeur GM, Schiffman JD, Plon SE, Diller LR, Malkin D, Porter CC, Villani A. 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. PMID: 36001348.
      Citations:    
    42. Horak 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 D. Standards 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. PMID: 36063163.
      Citations:    
    43. Scollon 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 SE. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859. PMID: 35713195; PMCID: PMC9529793.
      Citations:    Fields:    
    44. MacFarland SP, Xie H, Dent MH, Greed B, Plon SE, Scollon SR, Brodeur GM, Howe JR. FOCAD Indel in a Family With Juvenile Polyposis Syndrome. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):56-58. PMID: 35622075.
      Citations:    Fields:    Translation:Humans
    45. Chandramohan R, Reuther J, Gandhi I, Voicu H, Alvarez KR, Plon SE, Lopez-Terrada DH, Fisher KE, Parsons DW, Roy A. A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels. J Mol Diagn. 2022 07; 24(7):760-774. PMID: 35487348; PMCID: PMC9302205.
      Citations:    Fields:    Translation:Humans
    46. Leppig KA, Plon SE, Milewicz DM, Levy-Lahad E, Jarvik GP. The annual ASHG dinner. Am J Hum Genet. 2022 03 03; 109(3):377-378. PMID: 35245469; PMCID: PMC9260672.
      Citations: 1     Fields:    
    47. Tallis E, Scollon S, Ritter DI, Plon SE. Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 06; 264-265:29-32. PMID: 35306447; PMCID: PMC9133135.
      Citations:    Fields:    Translation:HumansCells
    48. Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Kreutzfeldt S, Stenzinger A, Tamborero D, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, 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 D, Rieke D, Benary M, Campregher PV. Standards 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. PMID: 35101336; PMCID: PMC9081216.
      Citations: 2     Fields:    Translation:Humans
    49. Preston 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). ClinGen 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. PMID: 35039090; PMCID: PMC8764818.
      Citations: 1     Fields:    Translation:Humans
    50. Garcia 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 A. Distinct 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. PMID: 35026696; PMCID: PMC8920771.
      Citations:    Fields:    Translation:Humans
    51. Plon SE. Importance 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. PMID: 34793247; PMCID: PMC8683232.
      Citations:    Fields:    Translation:Humans
    52. Mangum R, Reuther J, Bertrand KC, Chandramohan R, Kukreja MK, Paulino AC, Muzny D, Hu J, Gibbs RA, Curry DJ, Malbari F, Chintagumpala MM, Adesina AM, Fisher KE, Mack SC, Plon SE, Roy A, Parsons DW, Lin FY. Durable 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. JCO Precis Oncol. 2021; 5. PMID: 34651095; PMCID: PMC8509924.
      Citations:    Fields:    Translation:Humans
    53. Ting 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 DW. Genomic 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. PMID: 34086347.
      Citations:    Fields:    Translation:HumansAnimals
    54. Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 07 01; 113(7):875-883. PMID: 33372952; PMCID: PMC8246828.
      Citations: 7     Fields:    Translation:HumansCells
    55. Hsu RL, Gutierrez AM, Schellhammer SK, Robinson JO, Scollon S, Street RL, Salisbury AN, Pereira S, Plon SE, Malek J, Parsons DW, McGuire AL. Pediatric Oncologists' Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care. J Pers Med. 2021 Jun 18; 11(6). PMID: 34207141; PMCID: PMC8235493.
      Citations:    
    56. Martin-Giacalone BA, Weinstein PA, Plon SE, Lupo PJ. Pediatric Rhabdomyosarcoma: Epidemiology and Genetic Susceptibility. J Clin Med. 2021 May 09; 10(9). PMID: 34065162; PMCID: PMC8125975.
      Citations: 3     
    57. Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA, ClinGen TP53 Variant Curation Expert Panel. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236. PMID: 33300245; PMCID: PMC8374922.
      Citations: 18     Fields:    Translation:HumansCells
    58. MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer Prev Res (Phila). 2021 02; 14(2):215-222. PMID: 33097490; PMCID: PMC8557953.
      Citations: 1     Fields:    Translation:Humans
    59. Marcotte EL, Schraw JM, Desrosiers TA, Nembhard WN, Langlois PH, Canfield MA, Meyer RE, Plon SE, Lupo PJ. Male Sex and the Risk of Childhood Cancer: The Mediating Effect of Birth Defects. JNCI Cancer Spectr. 2020 Oct; 4(5):pkaa052. PMID: 33134832; PMCID: PMC7583156.
      Citations: 1     Fields:    
    60. Popejoy AB, Crooks KR, Fullerton SM, Hindorff LA, Hooker GW, Koenig BA, Pino N, Ramos EM, Ritter DI, Wand H, Wright MW, Yudell M, Zou JY, Plon SE, Bustamante CD, Ormond KE, Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group. Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. Am J Hum Genet. 2020 07 02; 107(1):72-82. PMID: 32504544; PMCID: PMC7332657.
      Citations: 13     Fields:    Translation:Humans
    61. Schraw JM, Desrosiers TA, Nembhard WN, Langlois PH, Meyer RE, Canfield MA, Rasmussen SA, Chambers TM, Spector LG, Plon SE, Lupo PJ. Cancer diagnostic profile in children with structural birth defects: An assessment in 15,000 childhood cancer cases. Cancer. 2020 08 01; 126(15):3483-3492. PMID: 32469081; PMCID: PMC8485389.
      Citations: 4     Fields:    Translation:Humans
    62. Oak N, Cherniack AD, Mashl RJ, TCGA Analysis Network, Hirsch FR, Ding L, Beroukhim R, Plon SE, Huang KL, G?m?s ZH. Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 05 29; 12(1):51. PMID: 32471518; PMCID: PMC7260738.
      Citations: 10     Fields:    Translation:Humans
    63. Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR, ACMG Professional Practice and Guidelines Committee. Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1142-1148. PMID: 32321997.
      Citations: 18     Fields:    Translation:HumansCells
    64. Tomlinson CG, Sasa G, Aubert G, Martin-Giacalone B, Plon SE, Bryan TM, Bertuch AA, Gramatges MM. Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273. PMID: 32313107; PMCID: PMC7575615.
      Citations: 2     Fields:    Translation:Humans
    65. Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. A brief history of human disease genetics. Nature. 2020 01; 577(7789):179-189. PMID: 31915397; PMCID: PMC7405896.
      Citations: 118     Fields:    Translation:HumansAnimals
    66. Ritter DI, Rao S, Kulkarni S, Madhavan S, Offit K, Plon SE. A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud. 2019 10; 5(5). PMID: 31645350; PMCID: PMC6824250.
      Citations: 4     Fields:    Translation:Humans
    67. Lindsay H, Scollon S, Reuther J, Voicu H, Rednam SP, Lin FY, Fisher KE, Chintagumpala M, Adesina AM, Parsons DW, Plon SE, Roy A. Germline 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). PMID: 31624068; PMCID: PMC6824253.
      Citations: 8     Fields:    Translation:HumansCells
    68. Luo 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, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA, Soulier J, Raimbault A. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979. PMID: 31648317; PMCID: PMC6849945.
      Citations: 31     Fields:    Translation:Humans
    69. Patel AJ, Wan YW, Al-Ouran R, Revelli JP, Cardenas MF, Oneissi M, Xi L, Jalali A, Magnotti JF, Muzny DM, Doddapaneni H, Sebastian S, Heck KA, Goodman JC, Gopinath SP, Liu Z, Rao G, Plon SE, Yoshor D, Wheeler DA, Zoghbi HY, Klisch TJ. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 10 22; 116(43):21715-21726. PMID: 31591222; PMCID: PMC6815170.
      Citations: 35     Fields:    Translation:HumansCells
    70. Lupo 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 SE. Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births. JAMA Oncol. 2019 Aug 01; 5(8):1150-1158. PMID: 31219523; PMCID: PMC6587148.
      Citations: 30     Fields:    
    71. Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Am J Hum Genet. 2019 09 05; 105(3):625-630. PMID: 31303264; PMCID: PMC6731352.
      Citations: 12     Fields:    Translation:Humans
    72. Malek J, Pereira S, Robinson JO, Gutierrez AM, Slashinski MJ, Parsons DW, Plon SE, McGuire AL. Responsibility, culpability, and parental views on genomic testing for seriously ill children. Genet Med. 2019 12; 21(12):2791-2797. PMID: 31186522; PMCID: PMC9089459.
      Citations: 7     Fields:    Translation:Humans
    73. Plon SE, Lupo PJ. Genetic Predisposition to Childhood Cancer in the Genomic Era. Annu Rev Genomics Hum Genet. 2019 08 31; 20:241-263. PMID: 31082280.
      Citations: 9     Fields:    Translation:Humans
    74. Agrusa JE, Bertuch AA, DiNardo CD, Plon SE, Eckstein OS. Severe 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. PMID: 31050187; PMCID: PMC7880543.
      Citations: 1     Fields:    Translation:HumansCells
    75. Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019 May; 21(5):1261-1262. PMID: 30670880.
      Citations: 1     Fields:    
    76. Haines K, Sarabia SF, Alvarez KR, Tomlinson G, Vasudevan SA, Heczey AA, Roy A, Finegold MJ, Parsons DW, Plon SE, L?pez-Terrada D. Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation. Pediatr Blood Cancer. 2019 07; 66(7):e27745. PMID: 30977242.
      Citations: 10     Fields:    Translation:HumansCellsCTClinical Trials
    77. Cline MS, Liao RG, Parsons MT, Paten B, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, BRCA Challenge Authors, Burn J, Chanock S, Spurdle AB, Alquaddoomi F, Foulkes WD, Knoppers B, Zimmermann M, R?tsch G. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 12; 14(12):e1007752. PMID: 30586411; PMCID: PMC6324924.
      Citations: 63     Fields:    Translation:Humans
    78. Gutierrez AM, Statham EE, Robinson JO, Slashinski MJ, Scollon S, Bergstrom KL, Street RL, Parsons DW, Plon SE, McGuire AL. Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families. Patient Educ Couns. 2019 05; 102(5):895-901. PMID: 30581014; PMCID: PMC7197396.
      Citations: 3     Fields:    Translation:Humans
    79. Benn P, Plon SE, Bianchi DW. Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed. Prenat Diagn. 2019 04; 39(5):339-343. PMID: 30398677; PMCID: PMC6714972.
      Citations: 7     Fields:    Translation:Humans
    80. Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ. Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516. PMID: 30523343; PMCID: PMC6579719.
      Citations: 8     Fields:    Translation:Humans
    81. Lee 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 FJ. Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. Genet Med. 2019 07; 21(7):1497-1506. PMID: 30504931; PMCID: PMC6579711.
      Citations: 21     Fields:    Translation:Humans
    82. Scollon S, Majumder MA, Bergstrom K, Wang T, McGuire AL, Robinson JO, Gutierrez AM, Lee CH, Hilsenbeck SG, Plon SE, Parsons DW, Street RL. Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents. Patient Educ Couns. 2019 04; 102(4):680-686. PMID: 30482469; PMCID: PMC6440863.
      Citations: 6     Fields:    Translation:Humans
    83. Oak N, Ghosh R, Huang KL, Wheeler DA, Ding L, Plon SE. Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 01; 40(1):73-89. PMID: 30302893; PMCID: PMC6400659.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    84. Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE. Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552. PMID: 30311369; PMCID: PMC6310222.
      Citations: 10     Fields:    Translation:Humans
    85. Popejoy 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). The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Hum Mutat. 2018 11; 39(11):1713-1720. PMID: 30311373; PMCID: PMC6188707.
      Citations: 38     Fields:    Translation:Humans
    86. Pawliczek P, Patel RY, Ashmore LR, Jackson AR, Bizon C, Nelson T, Powell B, Freimuth RR, Strande N, Shah N, Paithankar S, Wright MW, Dwight S, Zhen J, Landrum M, McGarvey P, Babb L, Plon SE, Milosavljevic A, Clinical Genome (ClinGen) Resource. ClinGen Allele Registry links information about genetic variants. Hum Mutat. 2018 11; 39(11):1690-1701. PMID: 30311374; PMCID: PMC6519371.
      Citations: 12     Fields:    Translation:Humans
    87. Lee K, Krempely K, Roberts ME, Anderson MJ, Chao E, Dixon K, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R, Carneiro F, Figueiredo J, Oliveira C. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568. PMID: 30311375; PMCID: PMC6188664.
      Citations: 41     Fields:    Translation:Humans
    88. Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, Costa HA, Lachlan K, Ngeow J, Barnholtz-Sloan J, Sesock K, Hernandez F, Zhang L, Milko L, Plon SE, Hegde M, Eng C. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592. PMID: 30311380; PMCID: PMC6329583.
      Citations: 44     Fields:    Translation:Humans
    89. Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018 11; 39(11):1525-1530. PMID: 30311383; PMCID: PMC6188666.
      Citations: 34     Fields:    Translation:Humans
    90. Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS, Rivera-Mu?oz EA. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 11; 39(11):1614-1622. PMID: 30311389; PMCID: PMC6225902.
      Citations: 55     Fields:    Translation:Humans
    91. Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019 05; 21(5):1100-1110. PMID: 30287922; PMCID: PMC6450774.
      Citations: 44     Fields:    Translation:Humans
    92. Plon SE, Rehm HL. The Ancestral Pace of Variant Reclassification. J Natl Cancer Inst. 2018 10 01; 110(10):1133-1134. PMID: 29757403; PMCID: PMC6186517.
      Citations: 2     Fields:    Translation:Humans
    93. Oak N, Plon SE. Insights from the 2018 Biology of Genomes meeting. Genome Biol. 2018 09 28; 19(1):146. PMID: 30266087; PMCID: PMC6161377.
      Citations:    Fields:    Translation:HumansAnimals
    94. Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, CSER consortium, Plon SE, Jarvik GP. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 09 06; 103(3):319-327. PMID: 30193136; PMCID: PMC6128306.
      Citations: 47     Fields:    Translation:Humans
    95. Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019 04; 21(4):987-993. PMID: 30181607; PMCID: PMC6401338.
      Citations: 8     Fields:    Translation:Humans
    96. Skalet AH, Gombos DS, Gallie BL, Kim JW, Shields CL, Marr BP, Plon SE, Ch?vez-Barrios P. Reply. Ophthalmology. 2018 09; 125(9):e64-e65. PMID: 30143105.
      Citations:    Fields:    Translation:Humans
    97. Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM, Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Strea. Genome-wide sequencing in acutely ill infants: genomic medicine's critical application? Genet Med. 2019 02; 21(2):498-504. PMID: 29895853; PMCID: PMC6752673.
      Citations: 19     Fields:    Translation:Humans
    98. Rahimzadeh V, Schickhardt C, Knoppers BM, Vears DF, Fernandez CV, Pfister S, Plon S, Terry S, Williams J, Williams MS, Cornel M, Friedman JM, S?n?cal K. Key Implications of Data Sharing in Pediatric Genomics. JAMA Pediatr. 2018 05 01; 172(5):476-481. PMID: 29554172.
      Citations: 14     Fields:    Translation:Humans
    99. 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, Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L, Reimand J. Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14. PMID: 29625052; PMCID: PMC5949147.
      Citations: 239     Fields:    Translation:HumansCells
    100. 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, BIC Steering Committee. Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. NPJ Genom Med. 2018; 3:7. PMID: 29479477; PMCID: PMC5814433.
      Citations: 15     
    101. 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 12 04; 171(12):e173438. PMID: 28973083; PMCID: PMC6359927.
      Citations: 130     Fields:    Translation:Humans
    102. 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; PMCID: PMC5704597.
      Citations: 79     Fields:    Translation:Humans
    103. Gutierrez AM, Robinson JO, Statham EE, Scollon S, Bergstrom KL, Slashinski MJ, Parsons DW, Plon SE, McGuire AL, Street RL. Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure. Per Med. 2017 11; 14(6):503-514. PMID: 29749861; PMCID: PMC6393936.
      Citations: 7     Fields:    Translation:Humans
    104. 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; PMCID: PMC7336256.
      Citations: 8     Fields:    Translation:Humans
    105. Skalet AH, Gombos DS, Gallie BL, Kim JW, Shields CL, Marr BP, Plon SE, Ch?vez-Barrios P. Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology. 2018 03; 125(3):453-458. PMID: 29056300.
      Citations: 21     Fields:    Translation:HumansPHPublic Health
    106. 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, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Bacino CA, Xiao R, Breman AM, Smith JL, Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Davis EE, Yang Y, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Hoyer J, Zweier C, Reis A, Popp B. 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; PMCID: PMC5630163.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    107. 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, Yang JJ, Lupo PJ, Antillon-Klussmann F, Najera CR. 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; PMCID: PMC5560704.
      Citations: 7     Fields:    Translation:Humans
    108. Achatz MI, Porter CC, Druker H, Frebourg T, Foulkes WD, Kratz CP, Hansford JR, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE, Brugi?res L, Kuiper RP, Hernandez HS. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 07 01; 23(13):e107-e114. PMID: 28674119.
      Citations: 24     Fields:    Translation:Humans
    109. Kalish JM, Doros L, Helman LJ, Hennekam RC, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE, Kuiper RP. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res. 2017 07 01; 23(13):e115-e122. PMID: 28674120; PMCID: PMC5538793.
      Citations: 42     Fields:    Translation:Humans
    110. 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.
      Citations: 53     Fields:    Translation:Humans
    111. 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; PMCID: PMC5464621.
      Citations: 11     Fields:    Translation:Humans
    112. 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; PMCID: PMC5553563.
      Citations: 37     Fields:    Translation:Humans
    113. Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA, Molenaar JJ. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31. PMID: 28572264; PMCID: PMC5697784.
      Citations: 30     Fields:    Translation:HumansCells
    114. Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, Brugi?res 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.
      Citations: 49     Fields:    Translation:Humans
    115. Malek J, Slashinski MJ, Robinson JO, Gutierrez AM, Parsons DW, Plon SE, McCullough LB, McGuire AL. Parental Perspectives on Whole Exome Sequencing in Pediatric Cancer: A Typology of Perceived Utility. JCO Precis Oncol. 2017; 1. PMID: 31886451; PMCID: PMC6934167.
      Citations: 10     Fields:    
    116. 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; PMCID: PMC5473734.
      Citations: 142     Fields:    Translation:Humans
    117. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, 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, Stray-Pedersen A, K?ry S, Mercier S. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26. PMID: 28327206; PMCID: PMC5361813.
      Citations: 90     Fields:    Translation:Humans
    118. 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 Apr; 49(4):613-617. PMID: 28288113; PMCID: PMC5373987.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    119. 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 Resource. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 01 12; 9(1):3. PMID: 28081714; PMCID: PMC5228115.
      Citations: 27     Fields:    Translation:Humans
    120. 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 01; 180:115. PMID: 28010789.
      Citations:    Fields:    Translation:Humans
    121. 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; PMCID: PMC5335876.
      Citations: 254     Fields:    Translation:Humans
    122. 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, ClinGen Somatic Cancer Working Group. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 11 04; 8(1):117. PMID: 27814769; PMCID: PMC5095986.
      Citations: 29     Fields:    Translation:Humans
    123. 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. 2017 05; 19(5):575-582. PMID: 27811861; PMCID: PMC5415437.
      Citations: 28     Fields:    Translation:Humans
    124. 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 11 01; 34(31):3766-3772. PMID: 27354474; PMCID: PMC5446304.
      Citations: 8     Fields:    Translation:HumansCells
    125. 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. 2017 05; 64(5). PMID: 27748010; PMCID: PMC5469213.
      Citations: 1     Fields:    Translation:Humans
    126. 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.
      Citations: 8     Fields:    
    127. 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 01; 122(23):3697-3704. PMID: 27529658; PMCID: PMC5115939.
      Citations: 7     Fields:    Translation:HumansCells
    128. Plon SE. Improvement of outcomes for TP53 carriers. Lancet Oncol. 2016 09; 17(9):1184-6. PMID: 27501768.
      Citations: 2     Fields:    Translation:Humans
    129. 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 08 01; 126(8):2881-92. PMID: 27427983; PMCID: PMC4966312.
      Citations: 29     Fields:    Translation:HumansCells
    130. 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, CSER Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 07 07; 99(1):246. PMID: 27392080; PMCID: PMC5005464.
      Citations: 20     Fields:    
    131. 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 07 07; 99(1):247. PMID: 27392081; PMCID: PMC5005465.
      Citations: 51     Fields:    
    132. 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.
      Citations: 3     
    133. 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 06; 26(6):271-9. PMID: 26906009; PMCID: PMC4853247.
      Citations: 1     Fields:    Translation:HumansCells
    134. Green 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 Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066. PMID: 27181682; PMCID: PMC4908179.
      Citations: 73     Fields:    Translation:Humans
    135. 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, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Ou J, Pak CM, Punj S, Richards CS, Salama J, Strande NT, Biesecker LG, Rehm HL, Ghosh R, Milosavljevic A, Patel RY, Yang Y, Plon SE. Performance 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. PMID: 27181684; PMCID: PMC4908185.
      Citations: 172     Fields:    Translation:Humans
    136. 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 11; 18(11):1075-1084. PMID: 27171546; PMCID: PMC5557020.
      Citations: 58     Fields:    Translation:Humans
    137. Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, 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, L?pez-Terrada DH. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 May 01; 2(5):616-624. PMID: 26822237; PMCID: PMC5471125.
      Citations: 169     Fields:    
    138. 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 Apr 27; 17:188. PMID: 27121965; PMCID: PMC4847212.
      Citations: 6     Fields:    Translation:HumansCells
    139. 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 05; 209(5):182-94. PMID: 27132463; PMCID: PMC5497490.
      Citations: 16     Fields:    Translation:HumansAnimals
    140. 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 Feb 18; 7:10713. PMID: 26888176; PMCID: PMC4759630.
      Citations: 77     Fields:    Translation:Humans
    141. 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 07; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996.
      Citations: 94     Fields:    Translation:Humans
    142. Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, Plon SE, Clinical Sequencing Exploratory Research Consortium Tumor Working Group. Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst. 2016 Apr; 108(4). PMID: 26590952; PMCID: PMC4849259.
      Citations: 37     Fields:    Translation:Humans
    143. 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 Nov 17; 6:8891. PMID: 26573325; PMCID: PMC4660214.
      Citations: 41     Fields:    Translation:HumansCells
    144. 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; PMCID: PMC4982513.
      Citations: 19     Fields:    Translation:Humans
    145. 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.
      Citations: 12     Fields:    Translation:HumansCells
    146. Plon SE. BRCA1/2 population screening: embracing the benefits. Curr Oncol. 2015 Aug; 22(4):e230-1. PMID: 26300670; PMCID: PMC4530817.
      Citations: 3     Fields:    
    147. 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; PMCID: PMC5009914.
      Citations: 46     Fields:    Translation:Humans
    148. 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; PMCID: PMC4626433.
      Citations: 22     Fields:    Translation:Humans
    149. 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. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42. PMID: 26014595; PMCID: PMC4474187.
      Citations: 398     Fields:    Translation:Humans
    150. 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, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM, Le Marchand L. PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9. PMID: 25856668; PMCID: PMC4834863.
      Citations: 22     Fields:    Translation:Humans
    151. Curtin K, Malkin D, Hawkins DS, Skapek SX, Spector LG, Erhardt EB, Grufferman S, Schiffman JD, Lupo PJ, Danysh HE, Plon SE, Hettmer S, Papworth K, Melin B. 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.
      Citations: 13     Fields:    Translation:HumansPHPublic Health
    152. 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, Bondy ML, Melin BS. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278. PMID: 25652157; PMCID: PMC4317686.
      Citations: 6     Fields:    Translation:HumansCells
    153. 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; PMCID: PMC4496310.
      Citations: 3     Fields:    Translation:HumansCells
    154. 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; PMCID: PMC4617204.
      Citations: 3     Fields:    Translation:Humans
    155. 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, Gliogene Consortium. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384. PMID: 25482530; PMCID: PMC4296199.
      Citations: 101     Fields:    Translation:HumansCells
    156. 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.
      Citations: 588     Fields:    Translation:Humans
    157. 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, Parsons DW, Roy A, L?pez-Terrada D. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86. PMID: 25360585; PMCID: PMC4385430.
      Citations: 37     Fields:    Translation:Humans
    158. 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.
      Citations: 36     Fields:    
    159. 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.
      Citations: 13     Fields:    Translation:Humans
    160. 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.
      Citations: 20     Fields:    Translation:Humans
    161. 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 01; 94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
      Citations: 29     Fields:    Translation:Humans
    162. 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.
      Citations: 8     Fields:    Translation:Humans
    163. Eng CM, Yang Y, Plon SE. Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068. PMID: 24620872.
      Citations: 3     Fields:    Translation:Humans
    164. 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, Members of the CSER Actionability and Return of Results Working Group. 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.
      Citations: 75     Fields:    Translation:Humans
    165. 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.
      Citations: 821     Fields:    Translation:Humans
    166. 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.
      Citations: 41     Fields:    Translation:Humans
    167. Shah S, Schrader KA, 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 K, Waanders E. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231. PMID: 24013638; PMCID: PMC3919799.
      Citations: 127     Fields:    Translation:Humans
    168. 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.
      Citations: 29     Fields:    Translation:Humans
    169. 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.
      Citations: 5     Fields:    Translation:Humans
    170. 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.
      Citations: 46     Fields:    Translation:Humans
    171. 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; PMCID: PMC3783351.
      Citations: 16     Fields:    
    172. Hicks S, Plon SE, Kimmel M. Statistical analysis of missense mutation classifiers. Hum Mutat. 2013 Feb; 34(2):405-6. PMID: 23086893.
      Citations: 1     Fields:    Translation:Humans
    173. Powell BC, Jiang L, Muzny DM, Dreyer ZE, Strong LC, Wheeler DA, Gibbs RA, Plon SE, Trevi?o LR. 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.
      Citations: 18     Fields:    Translation:Humans
    174. 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; PMCID: PMC6859647.
      Citations: 4     Fields:    Translation:Humans
    175. Biesecker LG, Burke W, Kohane I, Plon SE, Zimmern R. Next-generation sequencing in the clinic: are we ready? Nat Rev Genet. 2012 11; 13(11):818-24. PMID: 23076269; PMCID: PMC3891793.
      Citations: 58     Fields:    Translation:Humans
    176. 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.
      Citations: 17     Fields:    Translation:HumansCells
    177. 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.
      Citations: 89     Fields:    Translation:Humans
    178. Dhar SU, Chintagumpala M, Noll C, Paysse EA, Plon SE, Ch?vez-Barrios P. Outcomes of integrating genetics in management of patients with retinoblastoma. Arch Ophthalmol. 2011 Nov; 129(11):1428-34. PMID: 22084214.
      Citations: 10     Fields:    Translation:Humans
    179. 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, Ziogas A. Clinically relevant changes in family history of cancer over time. JAMA. 2011 Jul 13; 306(2):172-8. PMID: 21750294; PMCID: PMC3367662.
      Citations: 26     Fields:    Translation:Humans
    180. Cheung HC, Yatsenko SA, Kadapakkam M, Su J, Lupski JR, Plon SE, Legay H. 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.
      Citations: 4     Fields:    Translation:HumansCells
    181. 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.
      Citations: 22     Fields:    Translation:HumansCells
    182. 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 08; 88(4):402-21. PMID: 21473982; PMCID: PMC3071916.
      Citations: 19     Fields:    Translation:Humans
    183. 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.
      Citations: 99     Fields:    Translation:Humans
    184. 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.
      Citations: 15     Fields:    Translation:Humans
    185. Plon SE. Unifying cancer genetics. Genet Med. 2011 Mar; 13(3):203-4. PMID: 21311342; PMCID: PMC3412587.
      Citations: 1     Fields:    Translation:HumansCells
    186. 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.
      Citations: 42     Fields:    Translation:Humans
    187. 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.
      Citations: 6     Fields:    Translation:HumansCells
    188. 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.
      Citations: 11     Fields:    Translation:HumansCells
    189. 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.
      Citations: 39     Fields:    Translation:HumansCells
    190. 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.
      Citations: 50     Fields:    Translation:HumansCells
    191. Strome ED, Plon SE. Utilizing Saccharomyces cerevisiae to identify aneuploidy and cancer susceptibility genes. Methods Mol Biol. 2010; 653:73-85. PMID: 20721738.
      Citations:    Fields:    Translation:HumansAnimals
    192. Spurdle 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 G. 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.
      Citations: 3     Fields:    Translation:Humans
    193. 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.
      Citations: 4     Fields:    Translation:HumansCells
    194. 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.
      Citations: 37     Fields:    Translation:HumansCells
    195. 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.
      Citations: 6     Fields:    Translation:AnimalsCells
    196. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV, IARC Unclassified Genetic Variants Working Group. 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.
      Citations: 364     Fields:    Translation:HumansCells
    197. Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB, IARC Unclassified Genetic Variants Working Group. 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.
      Citations: 17     Fields:    Translation:Humans
    198. 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, K??ri?inen H, Kestil? M. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb; 17(2):151-8. PMID: 18716613; PMCID: PMC2986053.
      Citations: 86     Fields:    Translation:Humans
    199. 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.
      Citations: 6     Fields:    Translation:HumansCells
    200. 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.
      Citations: 8     Fields:    Translation:HumansCells
    201. 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.
      Citations: 3     Fields:    Translation:Humans
    202. 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.
      Citations: 37     Fields:    Translation:HumansCells
    203. 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.
      Citations: 20     Fields:    Translation:HumansCells
    204. 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.
      Citations: 34     Fields:    Translation:Humans
    205. 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.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    206. 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.
      Citations: 63     Fields:    Translation:Humans
    207. 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.
      Citations: 18     Fields:    Translation:HumansCells
    208. 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 01; 13(5):1516-22. PMID: 17332297.
      Citations: 61     Fields:    Translation:HumansCTClinical Trials
    209. 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.
      Citations: 24     Fields:    Translation:HumansCells
    210. 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.
      Citations: 60     Fields:    Translation:HumansAnimalsCells
    211. 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 01; 66(17):8397-403. PMID: 16951149.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    212. 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.
      Citations:    Fields:    Translation:Humans
    213. 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.
      Citations: 41     Fields:    Translation:HumansCells
    214. 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.
      Citations: 23     Fields:    Translation:HumansCells
    215. 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 01; 11(13):4689-93. PMID: 16000562.
      Citations: 19     Fields:    Translation:HumansCells
    216. Plon SE, Nathanson K. Inherited susceptibility for pediatric cancer. Cancer J. 2005 Jul-Aug; 11(4):255-67. PMID: 16197716.
      Citations: 6     Fields:    Translation:Humans
    217. Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Gillerot Y, Verloes A, Van Maldergem L, Kestil? M, M?garban? 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.
      Citations: 72     Fields:    Translation:Humans
    218. 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.
      Citations: 5     Fields:    Translation:HumansCells
    219. 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.
      Citations: 2     Fields:    Translation:HumansCells
    220. 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.
      Citations: 40     Fields:    Translation:Humans
    221. Levy-Lahad E, Plon SE. Cancer. A risky business--assessing breast cancer risk. Science. 2003 Oct 24; 302(5645):574-5. PMID: 14576407.
      Citations: 4     Fields:    Translation:Humans
    222. 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.
      Citations: 26     Fields:    Translation:AnimalsCells
    223. 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 07; 95(9):669-74. PMID: 12734318.
      Citations: 102     Fields:    Translation:Humans
    224. 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.
      Citations: 10     Fields:    Translation:Humans
    225. 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.
      Citations: 17     Fields:    Translation:Humans
    226. 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.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    227. 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.
      Citations: 2     Fields:    Translation:Humans
    228. 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.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    229. 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.
      Citations: 29     Fields:    Translation:HumansCells
    230. 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.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    231. 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.
      Citations: 13     Fields:    Translation:HumansCells
    232. 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.
      Citations: 68     Fields:    Translation:HumansCells
    233. 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.
      Citations: 10     Fields:    Translation:HumansCells
    234. 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.
      Citations: 7     Fields:    Translation:Humans
    235. 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.
      Citations: 3     Fields:    Translation:Humans
    236. 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.
      Citations: 14     Fields:    Translation:HumansPHPublic Health
    237. 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.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    238. 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.
      Citations: 11     Fields:    Translation:Humans
    239. 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.
      Citations: 5     Fields:    Translation:Humans
    240. 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.
      Citations:    Fields:    Translation:HumansCells
    241. 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.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    242. 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.
      Citations: 10     Fields:    Translation:Humans
    243. Plon SE. Anticipation in pediatric malignancies. Am J Hum Genet. 1997 May; 60(5):1256-7. PMID: 9150177; PMCID: PMC1712442.
      Citations:    Fields:    Translation:Humans
    244. 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.
      Citations: 3     Fields:    Translation:Humans
    245. 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.
      Citations: 5     Fields:    Translation:Humans
    246. 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 01; 33(1):1-8. PMID: 8617492.
      Citations: 17     Fields:    Translation:HumansCells
    247. Mooney E, Plon SE. Terasaki plates streamline dideoxy sequencing. Biotechniques. 1995 May; 18(5):812. PMID: 7619485.
      Citations:    Fields:    
    248. 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.
      Citations: 46     Fields:    Translation:HumansCells
    249. 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.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    250. Plon SE, Groudine M. Unravelling immunoglobulin expression. Curr Biol. 1991 Feb; 1(1):13-4. PMID: 15336193.
      Citations:    Fields:    
    251. 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.
      Citations: 6     Fields:    Translation:HumansCells
    252. 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.
      Citations: 16     Fields:    Translation:Cells
    253. 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.
      Citations: 9     Fields:    Translation:HumansCells
    254. 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.
      Citations:    Fields:    Translation:AnimalsCells
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