Marcella Devoto, PhD
| Office Location | ARC 1002, CHOP |
| Office Phone | 267-426-0124 |
| devoto@email.chop.edu | |
Faculty Information | |
| CCEB Appointment | Senior Scholar, Epidemiology |
| Primary Faculty Appointment | Professor of Pediatrics at CHOP, University of Pennsylvania Perelman SOM |
| DBE Appointment | Professor of Epidemiology |
Additional Positions
Research Scientist, The Joseph Stokes Jr. Research Institute of The Children�s Hospital of Philadelphia, Philadelphia, PA
Adjunct Member, College of Graduate Studies, Thomas Jefferson University, Philadelphia, PA
Founding Member, Center for Biomedical Informatics, Children�s Hospital of Philadelphia, Philadelphia, PA
Associate Professor of Human Genetics, Universita� La Sapienza, School of Medicine, Rome, Italy
Research Statement
Dr. Devoto's main research interest is in the application and development of statistical genetics methods to the identification of genes responsible for human disorders, or underlying susceptibility to complex genetic traits. Researchers in Dr. Devoto's group use a variety of statistical genetic methods primarily for the purpose of carrying out linkage analysis and genetic association studies for disease gene mapping in families and patients with different genetic disorders.
Selected Publications
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJM, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi E, Lander AD, Calof AL8, Li HH, Devoto M, Jackson LG: Cornelia de Lange syndrome is caused by mutations in Delangin (DLNG), the human homolog of the Drosophila Nipped-B gene. Nat Genet 36:631-635, 2004.
Devoto M, Spotila LD, Stabley DL, Wharton GN, Rydbeck H, Korkko J, Kosich R, Prockop D, Tenenhouse A, Sol-Church K: Univariate and bivariate variance component linkage analysis of a whole genome scan for loci contributing to bone mineral density. Eur J Hum Genet 13:781-788, 2005.
Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I: Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet 70:12-26, 2006.
