Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
Elizabeth J. K. Bhoj, MD, PhD, is an attending physician with the Division of Human Genetics at Children’s Hospital of Philadelphia (CHOP). She is a graduate of the University of Texas Southwestern Medical Center at Dallas, earning not only her MD but a doctorate in philosophy there as well.
Dr. Bhoj’s papers on genetic diseases have been widely published, and she has given presentations on the topic and has been invited to lecture at numerous institutions. She is Associate Editor at the American Journal of Medical Genetics and is Assistant Professor of Pediatrics at the University of Pennsylvania’s Perelman School of Medicine.
Her work at CHOP is driven by the desire to provide solutions to the families of children with complex problems, Dr. Bhoj says. “I saw how difficult it was for patients and their families who were facing major medical issues without an explanation. I wanted to be able to find those explanations so every family could get the answers and treatments they need.”
In a field that is rapidly evolving, she takes an integrative approach to help her patients. “Genetics is moving so fast,” she says. “I'm really excited about combining information from the clinic and the laboratory to get kids the most accurate diagnosis as quickly as possible.”
Her research consists of finding new genetic disorders, determining how they work, and developing targeted treatments for them. “I am most interested in patients with complex disorders, and I especially love finding treatable disorders,” she says.
For patients suspected of having a genetic disorder, her philosophy of care goes beyond the makeup of the disease but incorporates the whole child. “Our team uses the most advanced genetic sequencing technology combined with extensive history and physical exam testing for the best possible outcomes for patients and their families suspected of having a genetic disorder,” she says.
Dr. Bhoj hopes that patients and their families leave CHOP knowing that she is part of a family committed to solving problems and capable of finding solutions, she says. “There is such a concentration of expertise here in every field — there will be a world expert for any condition.”
The focus at CHOP is building personal relationships with every young patient and their family. That aspect of Dr. Bhoj’s work is what she finds most rewarding. “I love giving families hope for their medically complex children. I want them to feel like they have a place on our team, and to have confidence in the solutions provided to their children.”
MD - University of Texas Southwestern Medical Center at Dallas, Dallas, TX
PhD in Philosophy - University of Texas Southwestern Medical Center at Dallas, Dallas, TX
Combined Pediatrics and Medical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
Molecular Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
Masters of Translational Research - University of Pennsylvania, Philadelphia, PA
Medical Scientist Training Program - University of Texas Southwestern Medical Center at Dallas, Dallas, TX
Attending Physician
Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
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.
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.
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.
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.
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.
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
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
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
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
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
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
2016-present, Associate Editor, American Journal of Medical Genetics
2013-present, Instructor and Editor, Becker Profession Education, USMLE Genetics and Biochemistry
2012-present, Ethics Committee