Publications:
A selected list of publications:
Abigail Gelb, Glenda S. Manligas, Salam Gaharibay, Lisa A. Schimmenti
Two new cSNPs in PAX2,
Human Mutation ,
2001; Human Mutation :
155.
Schimmenti, LA Shim, HH Wirtschafter, JD Panzarino, VA Kashtan, CE Kirkpatrick, SJ Wargowski, DS France, TD Michel, E Dobyns, WB
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome
Human mutation. ,
1999; 14(5):
369-76.
Micael R. Eccles and Lisa A. Schimmenti
Renal-coloboma syndrome; a multisystem disorder caused by PAX2 mutations,
Clinical Genetics ,
1999; 59:
1-9.
Lisa A. Schimmenti, Heather E. Cunliffe, Leslie A. McNoe, Teresa A. Ward, Michelle M. French, Heather H. Shim, Yao-Hua Zhang, Willem Proesmans, Anita Leys, Kyna A. Byerly, Stephen R. Braddock, Mitsuno Masuno, Kiyoshi Imaizumi, Koen Devriendt, Mich
Futher delineation of renal coloboma syndrome in patients with remarkable variability of phenotype and identical PAX2 mutations,
American Journal of Human Genetics,
1997; 60:
869-878.
Lisa A. Schimmenti, Gwendolyn L. Blechert, Kevin W. Harris, John C. Winkelman
Localization of an essential ligand binding determinant of the erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble receptor function,
Experimental Hematology,
1995; 23:
1321-1346.
Phaikasame Sanyanusin, Lisa A. Schimmenti, Leslie McNoe, Theresa Ward, William B. Dobyns, Mary Ella Pierpont, Michael Sullivan, Michael R. Eccles
Mutation of the PAX2 Gene in a family with congenital optic nerve colobomas, and ureteral and renal anomalies,
Nature Genetics,
1995; 9:
358-364.