Department of Pediatrics

Clinical Interests

Dr. Kozel focuses her clinical practice on genetics. She sees children with inherited medical conditions, multiple congenital anomalies and genetic conditions that increase risk of cancer. She has a clinical and research interest in the genetics of Williams Syndrome, familial supravalvular aortic stenosis and cutis laxa. She attends in the undiagnosed mendelian disorders clinic and is responsible for directing the research arm of this clinic. Services: Genetics and Genomic Medicine, Williams Syndrome Center, Cancer Predispostion Clinic, Undiagnosed Mendelian Disorders.

Education

• BA, Summa Cum Laude, Washington University in St. Louis, 1996
• MD, Washington University School of Medicine, 2004
• PhD, Washington University School of Medicine, 2004

Training

• Resident, St. Louis Children's Hospital, 2004 - 2007
• Resident (Fellow), Washington University School of Medicine, 2007 - 2009

Licensure and Board Certification

• American Board of Pediatrics , 2007
• MO, Unrestricted Medical License , 2007
• American Board of Medical Genetics , 2009

Honors

• Teresa Vietti Fellowship Award, 2010
• Co-Chair for the 2011 Gordon-Kenan Research Seminar, Elastin and Elastic Fibers, 2010 - 2011
• NIH K12 Scholar 1K12 (HL089968), 2010 - 2011
• Scholar of the Child Health Research Center of Excellence in Developmental Biology at Washington University School of Medicine, 2011 - 2013
• NIH K08 Recipient 1K08 (HL109076), 2011 - 2016
• Children's Discovery Institute Faculty Scholar, 2011 - 2016
• Williams Syndrome Association Heart to Heart Award, 2015

Recent Publications view all (34)

Publication Co-Authors

Marcia C. Willing, M.D., Ph. D.

Carmen Halabi, M.D., Ph.D.

Dustin Baldridge

Todd Druley, M.D., Ph.D.

Marwan Shinawi, M.D.

Charles Canter, M.D.

Gautam K. Singh, M.D.

Amy Clark, D.O.

Dennis J. Dietzen, Ph.D.

Dorothy Katherine Grange, M.D.

Robert J. Hayashi, M.D.

Vikas Dharnidharka, M.D., M.P.H.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Beth A. Kozel, M.D., Ph.D.

1. Groves AP, Gettinger K, Druley TE, Kozel BA, Shinawi M, Mohrmann C, Henry J, Jacobi C, Trinkaus K, Hayashi RJ. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol. 2018. PMID:30028825 
2. Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. Mol Genet Genomic Med. 2018. PMID:30008175 
3. Knutsen RH, Beeman SC, Broekelmann TJ, Liu D, Tsang KM, Kovacs A, Ye L, Danback JR, Watson A, Wardlaw A, Wagenseil JE, Garbow JR, Shoykhet M, Kozel BA. Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness. Am J Physiol Heart Circ Physiol. 2018;315(1):H18-H32. PMID:29498532 
4. O'Bryhim BE, Kozel BA, Lueder GT. Novel retinal findings in peroxisomal biogenesis disorders. Ophthalmic Genet. 2018;39(3):377-379. PMID:29377746 
5. Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Williams-Beuren syndrome in diverse populations. Am J Med Genet A. 2018;176(5):1128-1136. PMCID:PMC6007881  PMID:29681090 
6. Duque Lasio ML, Kozel BA. Elastin-driven genetic diseases. Matrix Biol. 2018. PMID:29501665 
7. Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017;19(9):1040-1048. PMCID:PMC5581723  PMID:28252636 
8. Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. Hypercalcemia in Patients with Williams-Beuren Syndrome. J Pediatr. 2016. PMID:27574996 
9. Kulsum-Mecci N, Goss C, Kozel BA, Garbutt JM, Schechtman KB, Dharnidharka VR. Effects of Obesity and Hypertension on Pulse Wave Velocity in Children. J Clin Hypertens (Greenwich). 2016. PMID:27511880 
10. Levin MD, Singh GK, Zhang HX, Uchida K, Kozel BA, Stein PK, Kovacs A, Westenbroek RE, Catterall WA, Grange DK, Nichols CG. KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome. Proc Natl Acad Sci U S A. 2016;113(24):6773-8. PMCID:PMC4914204  PMID:27247394 
11. Levin, M., Singh, G., Zhang, H., Uchida, K., Stein, P., Kovacs, A. Westenbroek, R., Catterall, W., Kozel, B., Grange, D., and Nichols, C. KATP channel gain-of-function leads to increased cardiomyocyte L-type Ca2+ current and myocardial hypercontractility in Cantu Syndrome JCI. 2015. 
12. Halabi CM, Broekelmann TJ, Knutsen RH, Ye L, Mecham RP, Kozel BA. Chronic antihypertensive treatment improves pulse pressure but not large artery mechanics in a mouse model of congenital vascular stiffness. Am J Physiol Heart Circ Physiol. 2015;309(5):H1008-16. doi:10.1152/ajpheart.00288.2015  PMID:26232234 
13. Knutsen, RH, Ye, L, Bernal-Mizrachi, C, Mecham RP and Kozel, BA. Context dependent interactions between renin and elastin affect blood pressure In preparation. 2015. 
14. Kozel BA, Su CT, Danback JR, Minster RL, Madan-Khetarpal S, McConnell JS, Mac Neal MK, Levine KL, Wilson RC, Sciurba FC, Urban Z. Biomechanical properties of the skin in cutis laxa. J Invest Dermatol. 2014;134(11):2836-8. doi:10.1038/jid.2014.224  PMCID:PMC4199921  PMID:24844858 
15. DeMarsilis AJ, Walji TA, Maedeker JA, Stoka KV, Kozel BA, Mecham RP, Wagenseil JE, Craft CS. Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism. J Mol Genet Med. 2014;8(3). doi:10.4172/1747-0862.1000129  PMCID:PMC4497575  PMID:26167199 
16. Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Skin findings in Williams syndrome. Am J Med Genet A. 2014;164A(9):2217-25. doi:10.1002/ajmg.a.36628  PMCID:PMC4134746  PMID:24920525 
17. Koehler U, Pabst B, Pober B, Kozel B. Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]. Eur J Hum Genet. 2014;22(9). doi:10.1038/ejhg.2014.28  PMCID:PMC4135419  PMID:24569604 
18. Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014;2(2):115-23. doi:10.1002/mgg3.48  PMCID:PMC3960053  PMID:24689074 
19. Osei-Owusu P, Knutsen RH, Kozel BA, Dietrich HH, Blumer KJ, Mecham RP. Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency. Am J Physiol Heart Circ Physiol. 2014. doi:10.1152/ajpheart.00601.2013  PMID:24414067 
20. Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. Hypertension. 2014;63(1):74-9. doi:10.1161/HYPERTENSIONAHA.113.02087  PMID:24126171 
21. Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet. 2013;84(5):473-81. doi:10.1111/cge.12202  PMCID:PMC3985344  PMID:23701296 
22. Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem. 2012;287(26):22055-67. doi:10.1074/jbc.M111.327940  PMCID:PMC3381164  PMID:22573328 
23. Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012;20(2):176-9. doi:10.1038/ejhg.2011.171  PMCID:PMC3260920  PMID:21934713 
24. Kozel BA, Knutsen RH, Ye L, Ciliberto CH, Broekelmann TJ, Mecham RP. Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation. J Biol Chem. 2011;286(52):44926-36. doi:10.1074/jbc.M111.274779  PMCID:PMC3248007  PMID:22049077 
25. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011;130(4):495-504. doi:10.1007/s00439-011-0968-y  PMCID:PMC3178759  PMID:21340693 
26. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332-41. doi:10.1136/jmg.2009.073015  PMCID:PMC3158566  PMID:19914906 
27. Toib A, Grange DK, Kozel BA, Ewald GA, White FV, Canter CE. Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. J Am Coll Cardiol. 2010;55(4):408-10. doi:10.1016/j.jacc.2009.11.019  PMID:20117447 
28. Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46(5):308-14. doi:10.1136/jmg.2008.063149  PMID:19188198 
29. Kozel BA, Rongish BJ, Czirok A, Zach J, Little CD, Davis EC, Knutsen RH, Wagenseil JE, Levy MA, Mecham RP. Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters. J Cell Physiol. 2006;207(1):87-96. doi:10.1002/jcp.20546  PMID:16261592 
30. Czirok A, Zach J, Kozel BA, Mecham RP, Davis EC, Rongish BJ. Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process. J Cell Physiol. 2006;207(1):97-106. doi:10.1002/jcp.20573  PMID:16331676 
31. Broekelmann TJ, Kozel BA, Ishibashi H, Werneck CC, Keeley FW, Zhang L, Mecham RP. Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain. J Biol Chem. 2005;280(49):40939-47. doi:10.1074/jbc.M507309200  PMID:16192266 
32. Kozel BA, Ciliberto CH, Mecham RP. Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells. Matrix Biol. 2004;23(1):23-34. doi:10.1016/j.matbio.2004.02.004  PMID:15172035 
33. Kozel BA, Wachi H, Davis EC, Mecham RP. Domains in tropoelastin that mediate elastin deposition in vitro and in vivo. J Biol Chem. 2003;278(20):18491-8. doi:10.1074/jbc.M212715200  PMID:12626514 
34. Lanyi A, Li B, Li S, Talmadge CB, Brichacek B, Davis JR, Kozel BA, Trask B, van den Engh G, Uzvolgyi E, Stanbridge EJ, Nelson DL, Chinault C, Heslop H, Gross TG, Seemayer TA, Klein G, Purtilo DT, Sumegi J. A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. Genomics. 1997;39(1):55-65. doi:10.1006/geno.1996.4466  PMID:9027486