Return to Faculty ListingVal Sheffield M.D., Ph.D.
val-sheffield
 uiowa eduProfessor of Pediatrics
Selected Publications
Stone, E.M., J.H. Fingert, W.L.M. Alward, T.D. Nguyen, J.R. Polansky, S.L.F. Sunden, D. Nishimura, A.F. Clark, A.Nystuen, B.E. Nichols, D.A. Mackey, R.Ritch, J.W. Kalenak, E.R. Craven, V.C. Sheffield (1997) Identification of a gene that causes primary open angle glaucoma. Science 275:668-670 Nishimura, D.Y., C.C. Searby, R. Carmi, K Elbedour, L. Van Maldergem, A.B. Fulton, B.L. Lam, B.R. Powell, R.E. Swiderski, K.E. Bugge, N.B. Haider, A.E. Kwitek-Black, L. Ying, D.M. Duhl, S.W. Gorman, E. Heon, A. Iannaccone, D. Bonneau, L.G. Biesecker, S.G. Jacobson, E.M. Stone, V.C. Sheffield (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 10(8)865-74 Nishimura, D.Y., C.C. Searby, W.L.M. Alward, D. Walton, J.E. Craig, D.A. Mackey, K. Kawase, A.B. Kanis, S.R. Patil, E.M. Stone, V.C. Sheffield (2001) A spectrum of FOXC1 mutations suggest gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet 68(2):364-72 Mykytyn, K, T. Braun, R. Carmi, N.B. Haider, C.C. Searby, M. Shastri, G. Beck, A.F Wright, A. Iannaccone, K. Elbedour, R. Riise, A. Baldi, A. Raas-Rothschild, S.W. Gorman, D.M. Duyk, S.G. Jacobson, T. Casavant, E.M. Stone, V.C. Sheffield (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genet 28(2):188-91 Mykytyn, K., D. Nishimura, C.C. Searby, M. Shastri, H-J Yen, J.S. Beck, T. Braun, L.M. Streb, A.S. Cornier, G.F. Cox, A.B. Fulton, R. Carmi, G. Luleci, S.C. Chandrasekharappa, F.S. Collins, S.G. Jacobson, J.R. Heckenlively, R.G. Weleber, E.M. Stone, V.C. Sheffield (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genet 31(4):435-8 Walder, R.Y., D. Landau, P.Meyer, H. Shalev, M. Tsolia, Z. Borochowitz, M.B. Boettger, G.E. Beck, R.K. Englehardt, R. Carmi, V.C. Sheffield (2002) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nature Genet 31(2):171-4 |
My laboratory is interested in identifying and understanding the function of genes which cause a variety of human disorders. Our research efforts have focused on the molecular genetics of monogenic disorders, as well as polygenic and multifactorial disorders. Our research efforts have resulted in the mapping of many different disease loci. In addition, we have used positional cloning methods to identify genes involved in a number of different diseases including hereditary blindness and deafness. Efforts are currently underway to use positional cloning strategies to identify additional disease-causing genes. Complex genetic disorders currently under investigation in the laboratory include hypertension, obesity, congenital heart disease and autism. In addition, we have worked on developing and improving techniques for disease mapping, positional cloning, and mutation detection. We have also had an active role in the human genome project and the rat genome project.