Elizabeth J. K. Bhoj, MD, PhD Elizabeth J. K. Bhoj, MD, PhD, is an attending physician in the Neuroendocrine Center at Children’s Hospital of Philadelphia. Locations: Main Campus Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) Education and Training Medical SchoolMD - University of Texas Southwestern Medical Center at Dallas, Dallas, TX PhD in Philosophy - University of Texas Southwestern Medical Center at Dallas, Dallas, TX ResidencyCombined Pediatrics and Medical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA FellowshipMolecular Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA Additional TrainingMedical Scientist Training Program - University of Texas Southwestern Medical Center at Dallas, Dallas, TX Graduate DegreeMasters of Translational Research - University of Pennsylvania, Philadelphia, PA Titles and Academic Titles Attending PhysicianAssistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania Departments and Services Neuroendocrine Center Publications Papers2018 Wenger T.L., Gallagher E.R., and E. J. Bhoj (2018). “An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment.” Cleft Palate Craniofac J. 2018 Jan 1 Pinz, H., L. C. Pyle, D. Li, K. Izumi, C. Skraban, J. Tarpinian, S. R. Braddock, A. Telegrafi, K. G. Monaghan, E. Zackai and E. J. Bhoj (2018). "De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies." Am J Med Genet A 176(4): 969-972. Wenger, T., D. Li, M. H. Harr, W. H. Tan, R. Pellegrino, Z. Stark, H. Hakonarson and E. J. Bhoj (2018). "Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins." Am J Med Genet A 176(1): 75-81. Smol, T., F. Petit, A. Piton, B. Keren, D. Sanlaville, A. Afenjar, S. Baker, E. C. Bedoukian, E. J. Bhoj, D. Bonneau, E. Boudry-Labis, S. Bouquillon, O. Boute-Benejean, R. Caumes, N. Chatron, C. Colson, C. Coubes, C. Coutton, F. Devillard, A. Dieux-Coeslier, M. Doco-Fenzy, L. J. Ewans, L. Faivre, E. Fassi, M. Field, C. Fournier, C. Francannet, D. Genevieve, I. Giurgea, A. Goldenberg, A. K. Green, A. M. Guerrot, D. Heron, B. Isidor, B. A. Keena, B. L. Krock, P. Kuentz, E. Lapi, N. Le Meur, G. Lesca, D. Li, I. Marey, C. Mignot, C. Nava, A. Nesbitt, G. Nicolas, C. Roche-Lestienne, T. Roscioli, V. Satre, A. Santani, M. Stefanova, S. Steinwall Larsen, P. Saugier-Veber, S. Picker-Minh, C. Thuillier, A. Verloes, G. Vieville, M. Wenzel, M. Willems, S. Whalen, Y. A. Zarate, A. Ziegler, S. Manouvrier-Hanu, V. M. Kalscheuer, B. Gerard and J. Ghoumid (2018). "MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype." Neurogenetics. 2017 Gibson, K. M., A. Nesbitt, K. Cao, Z. Yu, E. Denenberg, E. DeChene, Q. Guan, E. J. Bhoj, X. Zhou, B. Zhang, C. Wu, H. Dubbs, A. Wilkens, L. Medne, E. Bedoukian, P. S. White, J. Pennington, M. Lou, L. Conlin, D. Monos, M. Sarmady, E. Marsh, E. Zackai, N. Spinner, I. Krantz, M. Deardorff and A. Santani (2017). "Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data." Genet Med. Li, D., X. Chang, J. J. Connolly, L. Tian, Y. Liu, E. J. Bhoj, N. Robinson, D. Abrams, Y. R. Li, J. P. Bradfield, C. E. Kim, J. Li, F. Wang, J. Snyder, M. Lemma, C. Hou, Z. Wei, Y. Guo, H. Qiu, F. D. Mentch, K. A. Thomas, R. M. Chiavacci, R. Cone, B. Li, P. A. Sleiman and H. Hakonarson (2017). "A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling." Sci Rep 7(1): 3847. Kury, S., G. M. van Woerden, T. Besnard, M. Proietti Onori, X. Latypova, M. C. Towne, M. T. Cho, T. E. Prescott, M. A. Ploeg, S. Sanders, H. A. F. Stessman, A. Pujol, B. Distel, L. A. Robak, J. A. Bernstein, A. S. Denomme-Pichon, G. Lesca, E. A. Sellars, J. Berg, W. Carre, O. L. Busk, B. W. M. van Bon, J. L. Waugh, M. Deardorff, G. E. Hoganson, K. B. Bosanko, D. S. Johnson, T. Dabir, O. L. Holla, A. Sarkar, K. Tveten, J. de Bellescize, G. J. Braathen, P. A. Terhal, D. K. Grange, A. van Haeringen, C. Lam, G. Mirzaa, J. Burton, E. J. Bhoj, J. Douglas, A. B. Santani, A. I. Nesbitt, K. L. Helbig, M. V. Andrews, A. Begtrup, S. Tang, K. L. I. van Gassen, J. Juusola, K. Foss, G. M. Enns, U. Moog, K. Hinderhofer, N. Paramasivam, S. Lincoln, B. H. Kusako, P. Lindenbaum, E. Charpentier, C. B. Nowak, E. Cherot, T. Simonet, C. A. L. Ruivenkamp, S. Hahn, C. A. Brownstein, F. Xia, S. Schmitt, W. Deb, D. Bonneau, M. Nizon, D. Quinquis, J. Chelly, G. Rudolf, D. Sanlaville, P. Parent, B. Gilbert-Dussardier, A. Toutain, V. R. Sutton, J. Thies, L. Peart-Vissers, P. Boisseau, M. Vincent, A. M. Grabrucker, C. Dubourg, W. H. Tan, N. E. Verbeek, M. Granzow, G. W. E. Santen, J. Shendure, B. Isidor, L. Pasquier, R. Redon, Y. Yang, M. W. State, T. Kleefstra, B. Cogne, S. Petrovski, K. Retterer, E. E. Eichler, J. A. Rosenfeld, P. B. Agrawal, S. Bezieau, S. Odent, Y. Elgersma and S. Mercier (2017). "De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability." Am J Hum Genet 101(5): 768-788. Wenger, T. L., J. Dahl, E. J. Bhoj, A. Rosen, D. McDonald-McGinn, E. Zackai, I. Jacobs, C. L. Heike, A. Hing, A. Santani, A. F. Inglis, K. C. Sie, M. Cunningham and J. Perkins (2017). "Tracheal cartilaginous sleeves in children with syndromic craniosynostosis." Genet Med 19(1): 62-68. Bhoj, E. J., Z. Yu, Q. Guan, R. Ahrens-Nicklas, K. Cao, M. Luo, T. Tischler, M. A. Deardorff, E. Zackai and A. B. Santani (2017). "Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing." Genet Med 19(6): 715-718. Tan, T. Y., C. Gonzaga-Jauregui, E. J. Bhoj, K. A. Strauss, K. Brigatti, E. Puffenberger, D. Li, L. Xie, N. Das, I. Skubas, R. A. Deckelbaum, V. Hughes, S. Brydges, S. Hatsell, C. J. Siao, M. G. Dominguez, A. Economides, J. D. Overton, V. Mayne, P. J. Simm, B. O. Jones, S. Eggers, G. Le Guyader, F. Pelluard, T. B. Haack, M. Sturm, A. Riess, S. Waldmueller, M. Hofbeck, K. Steindl, P. Joset, A. Rauch, H. Hakonarson, N. L. Baker and P. G. Farlie (2017). "Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions." Am J Hum Genet 101(6): 985-994. 2016 Li, D.*, E. J. Bhoj*, E. McCormick, F. Wang, J. Snyder, T. Wang, Y. Zhao, C. Kim, R. Chiavacci, L. Tian, M. J. Falk and H. Hakonarson (2016). "Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function." Case Rep Genet 2016: 4140780. Mulchandani, S.*, E. J. Bhoj*, M. Luo, N. Powell-Hamilton, K. Jenny, K. W. Gripp, M. Elbracht, T. Eggermann, C. L. Turner, I. K. Temple, D. J. Mackay, H. Dubbs, D. A. Stevenson, L. Slattery, E. H. Zackai, N. B. Spinner, I. D. Krantz and L. K. Conlin (2016). "Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure." Genet Med 18(4): 309-315. Ryan, K. M., A. R. Ellis, R. Raafat, E. J. Bhoj, H. Hakonarson, D. Li and S. Schrier Vergano (2016). "Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals." Am J Med Genet A 170A(2): 482-486. Fregeau, B., B. J. Kim, A. Hernandez-Garcia, V. K. Jordan, M. T. Cho, R. E. Schnur, K. G. Monaghan, J. Juusola, J. A. Rosenfeld, E. J. Bhoj, E. H. Zackai, S. Sacharow, K. Baranano, D. G. M. Bosch, B. B. A. de Vries, K. Lindstrom, A. Schroeder, P. James, P. Kulch, S. R. Lalani, M. M. van Haelst, K. L. I. van Gassen, E. van Binsbergen, A. J. Barkovich, D. A. Scott and E. H. Sherr (2016). "De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions." Am J Hum Genet 98(5): 963-970. Bhoj, E. J.*, D. Li*, M. Harr, S. Edvardson, O. Elpeleg, E. Chisholm, J. Juusola, G. Douglas, M. J. Guillen Sacoto, K. Siquier-Pernet, A. Saadi, C. Bole-Feysot, P. Nitschke, A. Narravula, M. Walke, M. B. Horner, D. L. Day-Salvatore, P. Jayakar, S. A. Vergano, M. A. Tarnopolsky, M. Hegde, L. Colleaux, P. Crino and H. Hakonarson (2016). "Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia." Am J Hum Genet 98(4): 782-788. Zarate, Y. A., E. J. Bhoj, J. Kaylor, D. Li, Y. Tsurusaki, N. Miyake, N. Matsumoto, S. Phadke, L. Escobar, A. Irani, H. Hakonarson and S. A. Schrier Vergano (2016). "SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases." Am J Med Genet A 170(8): 1967-1973. Tooley, M., D. Lynch, F. Bernier, J. Parboosingh, E. J. Bhoj, E. Zackai, A. Calder, N. Itasaki, E. Wakeling, R. Scott, M. Lees, J. Clayton-Smith, M. Blyth, J. Morton, D. Shears, U. Kini, T. Homfray, A. Clarke, A. Barnicoat, C. Wallis, R. Hewitson, A. Offiah, M. Saunders, S. Langton-Hewer, T. Hilliard, P. Davis and S. Smithson (2016). "Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings." Am J Med Genet A 170A(5): 1115-1126. 2015 Wenger, T. L., E. J. Bhoj, R. F. Wetmore, M. T. Mennuti, S. P. Bartlett, T. J. Mollen, D. M. McDonald-McGinn and E. H. Zackai (2015). "Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve." Am J Med Genet A 167A(4): 852-857. Nesbitt, A.*, E. J. Bhoj*, K. McDonald Gibson, Z. Yu, E. Denenberg, M. Sarmady, T. Tischler, K. Cao, H. Dubbs, E. H. Zackai and A. Santani (2015). "Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders." Am J Med Genet A 167A(11): 2548-2554. Zarate, Y. A., K. A. Bosanko, E. J. Bhoj, R. Ganetzky, L. J. Starr, E. H. Zackai and G. B. Schaefer (2015). "Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses." Am J Med Genet A 167A(9): 2168-2175. Bhoj, E. J., D. Li, M. H. Harr, L. Tian, T. Wang, Y. Zhao, H. Qiu, C. Kim, J. D. Hoffman, H. Hakonarson and E. H. Zackai (2015). "Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome." Am J Med Genet A 167A(11): 2497-2502. Bhoj, E. J., M. Li, R. Ahrens-Nicklas, L. C. Pyle, J. Wang, V. W. Zhang, C. Clarke, L. J. Wong, N. Sondheimer, C. Ficicioglu and M. Yudkoff (2015). "Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis." JIMD Rep 19: 59-66. 2014 Wenger, T. L., M. Harr, S. Ricciardi, E. J. Bhoj, A. Santani, M. P. Adam, S. S. Barnett, R. Ganetzky, D. M. McDonald-McGinn, D. Battaglia, S. Bigoni, A. Selicorni, G. Sorge, M. D. Monica, F. Mari, E. Andreucci, S. Romano, G. Cocchi, S. Savasta, B. Malbora, G. Marangi, L. Garavelli, M. Zollino and E. H. Zackai (2014). "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases." Am J Med Genet A 164A(10): 2557-2566. Bhoj, E. J., V. Bhoj and F. M. Henretig (2014). "Pallor and lethargy in a 19-month-old boy." Pediatr Emerg Care 30(6): 444-446. Lynch, D. C., T. Revil, J. Schwartzentruber, E. J. Bhoj, A. M. Innes, R. E. Lamont, E. G. Lemire, B. N. Chodirker, J. P. Taylor, E. H. Zackai, D. R. McLeod, E. P. Kirk, J. Hoover-Fong, L. Fleming, R. Savarirayan, J. Majewski, L. A. Jerome-Majewska, J. S. Parboosingh and F. P. Bernier (2014). "Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome." Nat Commun 5: 4483. Posters and Presentations2017 Bhoj EJ. H3F3A/B Consortium, Hakon H. Hakonarson. Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. Platform Presentation, American Society of Human Genetics, Orlando, FL, 10/15/17 Bhoj EJ. H3F3A/B Consortium, Hakon H. Hakonarson. Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. Platform Presentation, 38th Annual David W. Smith Workshop, Burlington, VT, 8/26/17 Bhoj EJ, Dong Li, Margaret H Harr, Hakon H Hakonarson. Utilization of a Craniofacial Malformation Patient Cohort to Identify Novel Syndromes Leading to Targeted Therapeutics Development. Oral Abstract Presentation. American Cleft Palate Craniofacial Association Meeting. Colorado Spring, CO 3/16/17 2016 Bhoj EJ, Dong Li, Margaret H Harr, Peter Crino, Hakon H Hakonarson. Leucine as a Targeted mTOR Pathway Therapy for TBCK-Related Intellectual Disability, a Novel Progressive Syndrome. Platform Presentation, 17th Manchester Dysmorphology Conference, Manchester, UK 11/9/16 Bhoj EJ. Utilization of a Craniofacial Malformation Patient Cohort to Identify Novel Syndromes Leading to Targeted Therapeutics Development. Oral Abstract Presentation. Conference on Clinical Research for Rare Diseases, Bethesda, MD, 11/3/16 Bhoj EJ, Dong Li, Margaret H Harr, Peter Crino, Hakon H Hakonarson. Leucine as a Targeted mTOR Pathway Therapy for TBCK-Related Intellectual Disability, a Novel Progressive Syndrome. Platform Presentation, 37th Annual David W. Smith Workshop, Lake Arrowhead, CA, 9/13/16 2015 Bhoj EJ, Dong Li, Margaret H. Harr, Lifeng Tian, Tiancheng Wang, Yan Zhao, Haijun Qiu, Cecilia Kim, Jodi D. Hoffman, Hakon Hakonarson, Elaine Zackai. Expanding the SPECC1L Mutation Phenotypic Spectrum to Include Teebi Hypertelorism Syndrome. Platform Presentation, 36th Annual David W. Smith Workshop, St. Michael, MD, 8/11/15 Bhoj EJ, Dong Li, Margaret Harr, Elaine Zackai, Hakon Hakonarson. Hardikar Syndrome, A Rare Syndrome of Cleft Lip/Palate, and Urogenital Abnormalities, May Result From Variants in Myelin Gene Regulatory Factor. American Cleft Palate Craniofacial Association Meeting. Palm Spring, CA 4/24/15 Bhoj EJ, Farrah Rajabi, Elaine Zackai, Wen-Hann Tan. Imprinting Between Mouse And Human Orthologs Identifies 17 Novel Candidate Genes For Human Imprinting Disorders. Platform Presentation, Association for Clinical and Translational Science Meeting, Washington, D.C. 4/16/2015 Invited Lectures 2017 Bhoj EJ. "Harnessing the power of a large undiagnosed craniofacial patient cohort to drive novel human disease gene discovery." University of Texas Southwestern Medical School at Dallas, Dallas, TX 10/9/17 Bhoj EJ. "Harnessing the power of a large undiagnosed craniofacial patient cohort to drive neurodevelopmental gene discovery." Boston Children's Hospital, Boston, MA 6/16/17 2016 Bhoj EJ. "Novel human disease gene discoveries in a undiagnosed craniofacial patient cohort." Seattle Children's Hospital, Seattle Children's Hospital, Seattle WA, 10/14/16 Bhoj EJ. "Findings from an undiagnosed craniofacial patient cohort drive new discoveries in developmental biology." Princeton University, Princeton, NJ, 9/19/16 Awards and Honors 2018, Burroughs Wellcome Foundation, Career Award for Medical Scientists (2018) 2018, William K. Bowes, Jr. Award in Medical Genetics, Partners Healthcare (2018) 2018, Roberts Collaborative, CHOP, Forefront Award (2018) 2018, Society for Pediatric Research, Physician Scientist Award 2017, Roberts Collaborative, CHOP, Rapid Translation Award 2017, Outstanding Translational Poster Award, CHOP Research Poster Day 2017, ASHG/Charles J. Epstein Trainee Awards for Excellence in Human Genetics, Semi-Finalist 2016, Clinical Research for Rare Disease, Travel Award 2015, Distinguished CHOP Research Trainee Award, Children’s Hospital of Philadelphia 2015, American College of Medical Genetics and Genomics National Meeting, Top Poster Award 2014, Alavi-Dabiri Postdoctoral Fellowship Award, Children’s Hospital of Philadelphia 2014, American Society of Human Genetics, Poster Walk Award 2014, Institute for Translational Medicine and Therapeutics Scholarship, University of Pennsylvania 2014, 2015, Neurodevelopmental Research Salary Support Award, University of Pennsylvania 2009, Martin Luther King Jr. Scholarship for Community Service, Finalist Editorial and Academic Positions Editorial Positions 2016-present, Associate Editor, American Journal of Medical Genetics 2013-present, Instructor and Editor, Becker Profession Education, USMLE Genetics and Biochemistry Academic and Institutional Committees 2012-present, Ethics Committee 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 above from our nationally-recognized Press Ganey Patient Satisfaction Survey. 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