FollowMyHealth Patient Portal

Faculty Physicians

Beth A. Kozel, MD, PhD

Instructor, Pediatrics
Division of Genetics and Genomic Medicine

Specialty Areas

Genetics - Pediatric

Board Certifications

Pediatrics
Medical Genetics

Areas of Clinical Interest

chromosomal changes, inherited disorders, multiple medical problems of unknown origin, elastic fiber diseases, Williams-Beuren syndrome, supravalvular aortic stenosis, cutis laxa.

  • Maps & Directions
  • Education
  • Publication & Research

Maps & Directions

Maps & Directions

St. Louis Children’s Hospital

1 Children’s Place
St. Louis, MO 63110

Office Phone: 314-454-6093
Fax: 314-454-2075

Education

Education

PhD: Washington University School of Medicine, St. Louis MO 2004
Residency: Pediatrics, St. Louis Children's Hospital 2007
B.A.: Washington University in St. Louis, St. Louis MO 1996
Medical Degree: Washington University School of Medicine, St. Louis MO 2004
Fellowship: Genetics and Genomic Medicine, Washington University School of Medicine 2009

Publication & Research

Publication & Research

Skin findings in Williams syndrome.
Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR
Am J Med Genet A. 2014 Sep; 164A(9)2217-25. doi: 10.1002/ajmg.a.36628.

PMID:
    24920525
    [PubMed - indexed for MEDLINE]
Related citations


Biomechanical properties of the skin in cutis laxa.
Kozel BA, Su CT, Danback JR, Minster RL, Madan-Khetarpal S, McConnell JS, Mac Neal MK, Levine KL, Wilson RC, Sciurba FC, Urban Z
J Invest Dermatol. 2014 Nov; 134(11)2836-8. doi: 10.1038/jid.2014.224.

PMID:
    24844858
    [PubMed - indexed for MEDLINE]
Related citations


Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1.
Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR
Hypertension. 2014 Jan; 63(1)74-9. doi: 10.1161/HYPERTENSIONAHA.113.02087.

PMID:
    24126171
    [PubMed - indexed for MEDLINE]
Related citations


Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV
Clin Genet. 2013 Nov; 84(5)473-81. doi: 10.1111/cge.12202.

PMID:
    23701296
    [PubMed - indexed for MEDLINE]
Related citations


Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP
J Biol Chem. 2012 Jun 22; 287(26)22055-67. doi: 10.1074/jbc.M111.327940.

PMID:
    22573328
    [PubMed - indexed for MEDLINE]
Related citations


Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.
Kozel BA, Knutsen RH, Ye L, Ciliberto CH, Broekelmann TJ, Mecham RP
J Biol Chem. 2011 Dec 30; 286(52)44926-36. doi: 10.1074/jbc.M111.274779.

PMID:
    22049077
    [PubMed - indexed for MEDLINE]
Related citations


BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
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
Hum Genet. 2011 Oct; 130(4)495-504. doi: 10.1007/s00439-011-0968-y.

PMID:
    21340693
    [PubMed - indexed for MEDLINE]
Related citations


Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women.
Toib A, Grange DK, Kozel BA, Ewald GA, White FV, Canter CE
J Am Coll Cardiol. 2010 Jan 26; 55(4)408-10. doi: 10.1016/j.jacc.2009.11.019.

PMID:
    20117447
    [PubMed - indexed for MEDLINE]
Related citations


Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
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
J Med Genet. 2010 May; 47(5)332-41. doi: 10.1136/jmg.2009.073015.

PMID:
    19914906
    [PubMed - indexed for MEDLINE]
Related citations


Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
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
J Med Genet. 2009 May; 46(5)308-14. doi: 10.1136/jmg.2008.063149.

PMID:
    19188198
    [PubMed - indexed for MEDLINE]
Related citations


Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain.
Broekelmann TJ, Kozel BA, Ishibashi H, Werneck CC, Keeley FW, Zhang L, Mecham RP
J Biol Chem. 2005 Dec 9; 280(49)40939-47.

PMID:
    16192266
    [PubMed - indexed for MEDLINE]
Related citations


A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus.
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
Genomics. 1997 Jan 1; 39(1)55-65.

PMID:
    9027486
    [PubMed - indexed for MEDLINE]
Related citations

Areas of Research Interest

Dr Kozel is interested in the biology of elastic fiber formation and works with patients with elastic fiber diseases. Her current research is aimed at understanding why the severity of these conditions varies within individuals of the same family and among families.