Elizabeth T. Dechene, MS, CGC Elizabeth T. Dechene, MS, CGC, is a genetic counselor in the Division of Genomic Diagnostics at The Children's Hospital of Philadelphia. Locations: Main Campus Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) Education and Training Undergraduate DegreeBA in Biological Foundations of Behavior - Franklin and Marshall College, Lancaster, PA Graduate DegreeMS in Genetic Counseling - Brandeis University, Waltham, MA Titles and Academic Titles Genetic Counselor, Division of Genomic Diagnostics Departments and Services Division of Genomic Diagnostics Publications Papers2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, et al. (2014) An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol, 15(3): R53. Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. (2014) Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 35(7):868-79. Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. (2014) Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics, 15:248. 2013 Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. (2013) Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology, 81(14):1205-14. DeChene ET, Kang PB, Beggs AH. (Updated 2013) Congenital fiber type disproportion. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://www.genetests.org. Berg JS, Amendola LM, Eng C, Allen EV, 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. (2013) 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, 15 (11):860-7. 2012 Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, et al. (2012) Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat, 33(6):949-59. Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. (2012) Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics, 13(2):115-24. Posters and Presentations2013 DeChene ET, Mulchandani S, Dulik MC, Slack I, Bernhardt BA, Conlin LK, Izumi K, Noon SE, Pyeritz RE, Santani A, Stolle CA, Wilkens A, Krantz ID, Spinner NB. (2013) A framework for incidental findings from exome sequencing in the pediatric setting. Presentation at the American College of Medical Genetics & Genomics Annual Conference. Phoenix, AZ. DeChene ET, Mulchandani S, Dulik MC, Conlin LK, Abrudan JL, Bernhardt BA, Izumi K, Noon SE, Pyeritz RE, Santani A, Slack IF, Stolle CA, Wilkens AB, Krantz ID, Spinner NB. (2013) An evidence-based framework for incidental findings from exome sequencing in the pediatric setting. Poster at the American Society of Human Genetics Annual Meeting, Boston, MA. Dulik MC, DeChene ET, Conlin LK, Mulchandani S, Santani A, Abrudan JL, Italia MJ, Sarmady M, Perin JC, Bernhardt BA, Stolle C, Pyeritz RE, Wilkens AB, Noon SE, White PS, Krantz ID, Spinner NB. (2013) Practical assessment of incidental finding recommendations for use in clinical exome testing. Presentation at the American Society of Human Genetics Annual Meeting, Boston, MA. Jayaraman V, Brunton J, Sasson A, Sarmady M , Abrudan JL, Dulik MC, DeChene ET, Noon SE, Wilkens AB, Dickinson A, Kaur M, Conlin LK, Spinner NB, White PS, Krantz ID. (2013) Utility and limitations of exome sequencing for the molecular diagnosis of bilateral sensorineural hearing loss. Poster at the American Society of Human Genetics Annual Meeting, Boston, MA. Leadership and Memberships Memberships in professional organizations American Society of Human GeneticsNational Society of Genetic Counselors Patient Experience Ratings About the Patient Experience Rating System The Patient Experience Rating is an average of all responses to the care provider related questions shown below from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question. Responses are measured on a scale of 1 to 5 with 5 being the best score. The comments are submitted by patients and families and reflect their views and opinions. 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