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Catherine A. Stolle , PhD

Director, Molecular Genetics Laboratory

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

Original Papers


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.

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