Catherine A. Stolle, PhD

Catherine A. Stolle, PhD, is a member of the Division of Genomic Diagnostics at The Children's Hospital of Philadelphia.

Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

  • Background

    Catherine A. Stolle is a board certified clinical molecular geneticist with 25 years of experience in the biochemistry and molecular biology of genetic disease as both a basic researcher and a molecular diagnostic lab director. Her research interests have been in genetic disorders of collagen, particularly Ehlers-Danlos syndrome type IV, and molecular mechanisms underlying beta thalassemia.

    More recently, her clinical interests have included the molecular diagnosis of craniosynostosis syndromes (Crouzon, Pfeiffer, and Saethre-Chotzen syndromes) and heritable kidney cancers (von Hippel-Lindau, hereditary papillary RCC, hereditary leiomyomatosis and RCC, and Birt-Hogg-Dube). In collaboration with Dr. W. Marston Linehan at the National Cancer Institute, these later efforts have resulted in the detection of virtually 100% of mutations in patients with clinically proven VHL (Stolle et al, 1998) and the first well characterized cases of mosaicism for VHL gene mutations (Sgambati et al., 2000).

  • Education and Training


    Postdoctoral Associate - Yale University School of Medicine, New Haven, CT

    Board Certification

    Clinical Molecular Genetics

    Undergraduate Degree

    MA - Boston University, Boston, MA
    BS - University of Rhode Island, Kingston, RI

    Graduate Degree

    PhD - Rutgers University/UMDNJ, Newark, NJ

  • Titles and Academic Titles

    Director, Molecular Genetics Laboratory

    Adjunct Associate Professor, Perelman School of Medicine at the University of Pennsylvania

  • Departments and Services
  • Publications



    Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet. 2010 May 14;86(5):730-42. Epub 2010 Apr 29. Read abstract


    Rich TA, Jonasch E, Matin S, Waguespack SG, Santarfia L, Stolle C, Jimenez C. A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma in a carrier of a factor V Leiden mutation. Cancer Invest.26: 642-646, 2008.


    Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, L. Middelton, M.L. Turner, M.M. Walther, M.J. Merino, B. Zbar, W.M. Linehan, and J.R. Toro.  Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J. Med. Genet. 43: 18-27, 2006.2004
    Mulliken, J.B., Gripp, K.W., Stolle, C.A., Steinberger, D., and Muller, U.  Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast. Reconstr. Surg. 113: 1899-1909, 2004.Schmidt, L.S., M.L. Nickerson, D. Angeloni, G.M. Glenn, M.M. Walther, P.S. Albert, M.B. Warren, P.L. Choyke, C.A. Torres-Cabala, M.J. Merino, J. Brunet, V. Berez, J. Borras, G. Sesia, L. Middelton, J.L. Phillips, C. Stolle, B. Zbar, S.E. Pautler, and W.M. Linehan.  Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the MET proto-oncogene.  J. Urol. 172: 1256-1261, 2004.

    Sgambati, M.T., C. Stolle, P.L. Choyke, M.M. Walther, B. Zbar, W.M. Linehan, and G.M. Glenn. Mosaicism in von Hippel-Lindau disease:  lessons from kindreds with germline mutations identified in offspring with mosaic parents. Amer. J. Hum. Genet. 66: 84-91, 2000.

    Gripp, K.W., C.A. Stolle, L. Celle, D.M. McDonald-McGinn, L.A. Whitaker, and E.H. Zackai. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.   Amer. J. Med. Genet. 82: 170-176, 1999.
    Stolle CA, Glenn G, Zbar B, Humphrey JS, Choyke P, McClellan W, Pack S, Hurley K, Andrey C, Linehan WM.  Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.  Human Mutation 12: 417-423, 1998.
    Gripp, K.W., C.A. Stolle, D.M. McDonald-McGinn, R.I. Markowitz, S.P. Bartlett, L.A. Whitaker, J.A. Katowitz, M. Muenke, and E.H. Zachai.  The phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.  Amer. J. Med. Genet. 78: 356-360, 1998.