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Lisa Schimmenti

PROJECT AFFILIATION:

PROFESSIONAL ROLES

  • Higher Ed: Science 

BIO


Lisa A. Schimmenti, M.D. is an Associate Professor of Pediatrics in the Division of Genetics and Metabolism. She holds a joint appointment in the Department of Ophthalmology for her research and patient care in Ophthalmic Genetics.

Dr. Schimmenti received her undergraduate degree from Johns Hopkins University in Baltimore, Maryland. She received her medical degree from Albert Einstein College of Medicine in New York. She competed her pediatric residency at Harbor-UCLA Medical Center, Torrance, California and her fellowship in Genetics and Metabolism at the University of Minnesota.

Clinical Services

Dr. Schimmenti provides clinical genetic services for patients and families. Her areas of clinical strength include the hearing loss genetics, ophthalmic genetics, developmental disability including autism. She also provides expert medical services for children and adults with inborn errors of metabolism and consultation for babies identified to be at risk of inborn errors of metabolism through newborn screening.

Research Areas

Dr. Schimmenti conducts research in understanding the genetic basis of neurosensory conditions with focus on childhood blindness, hearing loss and developmental disabilities. Her research efforts have been funded by the National Institutes of Health, the March of Dimes and the Minnesota Medical Foundation.
 

EXPERTISE

Medical Genetics, Newborn Screening, Ophthalmic Genetics, Birth Defects, Childhood neurosensory conditions, hearing loss, blindness, developmental eye defects 

RECENT PUBLICATIONS

L.A. Schimmenti, A. Martinez, M. Fox, B. Crandall, N. Shapiro, M. Telatar, Y. Sininger, W.W. Grody, C.G.S. Palmer (2004) Commentary: Genetic testing as part of the Early Hearing Detection and Intervention (EHDI) Process. Genetics in Medicine, 6:521-525.

Lisa A. Schimmenti, M.D., Eric Crombez, M.D., Bernd C. Schwahn M.D., Bryce A. Heese, M.D., Timothy C. Wood, Ph.D., Richard J. Schroer, M.D., Kristi Bentler, M.S., Stephen Cederbaum, M.D., Kiki Sarafoglou, M.D., Ph.D., Mark McCann, B.A, Piero Rinaldo, M.D., Ph.D., Dietrich Matern M.D., Cristina Amat di San Filippo, M.S., Marzia Pasquali Ph.D., Susan A. Berry, M.D., Nicola Longo, M.D., Ph.D (2007) Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab 90:441-445.

M.A. Pickart, E.W. Klee, A.L. Nielson, S. Sivasubbu, E.M. Mendenhall, B.R. Bill1, E. Chen, C.E. Eckfeldt, M. Knowlton, M.E. Robu1, J.D. Larson, Y. Deng, L.A. Schimmenti, L.B.M. Ellis, C.M. Verfaillie, M. Hammerschmidt, S.A., Farber and S.C. Ekker (2006) Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS ONE 1(1): e104.

Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George H. Thomas, ke Borg, David Valle, Lisa Schimmenti, Scott Selleck (2007) Genomic disorder on 10q associated with cognitive and behavioral abnormalities. American Journal of Human Genetics 80:938-947.

Schimmenti LA, Eccles M (June 2007) Renal Coloboma Syndrome in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2007. Available at http://www.genetests.org.

Gordana Raca, Lisa A. Schimmenti, Christa Lese-Martin (2008) Intrachromosomal Duplications of 22q11are not a Common Cause of Isolated Coloboma and Coloboma with Other Limited Phenotypic Features of Cat Eye Syndrome, American Journal of Medical Genetics146 :401-4.