Publications, Presentations and Awards
1. Eric A. Muller, Swaroop Aradhya, Joan F. Atkin, Erin P. Carmany, Alison M. Elliott, Albert E. Chudley, Robin D. Clark, David B. Everman, Shannon Garner, Bryan D. Hall, Gail E. Herman, Emma Kivuva, Subhadra Ramanathan, David A. Stevenson, David W. Stockton, and Louanne Hudgins. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet Part A. 2012; 158A: 391-399.
2. Muller II E, Hudgins L. (August 18, 2011) 9q22.3 Microdeletion. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1993-2011. Available at www.genetests.org.
3. Muller EA and Danner DJ. Tissue-specific translation of murine branched-chain [alpha]-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5' UTR. J Biol Chem 2004; 279 (43): 44645-44655.
4. Danner DJ, Muller EA, and Kasinski A. The complexity of single gene disorders: Lessons from maple syrup urine disease and thiamine responsiveness. In: Thiamine: Catalytic Mechanisms in Normal and Disease States, Jordan F and Patel M, Editors. 2004, New York, NY: Marcel Dekker; p. 509-524.
5. Pulaski BA, Terman DS, Khan S, Muller E, and Ostrand-Rosenberg S. Cooperativity of Staphylococcus aureus enterotoxin B superantigen, major histocompatibility complex class II, and CD80 for immunotherapy of advanced spontaneous metastases in a clinically relevant postoperative mouse breast cancer model. Cancer Res 2000; 60 (10): 2710-2715.
6. Eichenbaum Z, Muller E, Morse SA, and Scott JR. Acquisition of iron from host proteins by the group A streptococcus. Infect Immun 1996; 64 (12): 5428-5429.
Professional Meeting Presentations
1. Eric Muller. Prenatal diagnosis of amyoplasia congenita. Platform presentation at Western Society for Pediatric Research (WSPR) annual meeting, session 277, Carmel, California, January 26-29, 2011. Abstract citation: Muller E, Enns G, Barth R, Hudgins L. J Investig Med Jan 2011;59(1): 165.
2. Eric Muller. Deletion 9q22.3: Gorlin syndrome plus. Platform presentation at David W Smith 31st Annual Workshop on Malformations and Morphogenesis, Union, Washington, August 27-Sept 1, 2010. Deletion 9q22.3: gorlin syndrome plus metopic craniosynostosis, macrosomia, and developmental delay.
3. Eric Muller. Oculocerebrocutaneous (Delleman) syndrome: a new case with prenatal findings and differential diagnosis. Platform presentation at Western Society for Pediatric Research (WSPR) annual meeting, session 278, Carmel, California. January 27-30, 2010. Abstract citation: E. Muller, P. Barnes, K. Montez, J. Hahn, J. Yang, S. Hintz, A. Penn, G. Enns. J Investig Med Jan 2010: 58(1); 183.
Western Society for Pediatric Research 2011 Mead Johnson Travel Award
Western Society for Pediatric Research 2010 Mead Johnson Travel Award
Philosophy of Care
I believe in conducting my practice in a professional and courteous manner. It is very important to me that I explain, teach and discuss testing, treatment and follow-up options with my patients and their families in a straight-forward, plain-spoken manner, without the use of extensive medical language. This enables my patients to better understand what may often be complicated genetic conditions, so we can develop a consensus plan together, based on the family's needs. My concern and focus is more on clinical diagnosis, genetic counseling, and recurrence risk to other family members rather than genetic testing just for the sake of testing. Furthermore, I strive toward a tiered, rational and systematic approach, based on the most likely and highest yield for a diagnosis, while taking into consideration what would be the least burdensome for the family. I welcome questions from families and primary care providers, and believe in communicating results directly to the family, not just to one's physician(s). Accordingly, I give families the opportunity to discuss abnormal or positive results in person at a follow-up appointment.