Lisa Schimmenti, M.D.

Associate Professor, Pediatrics and Ophthalmology
Mayo Mail Code 296
420 Delaware St. SE 
Minneapolis, MN 55455
Ofc: (612) 624-1966
Fax: (612) 626-2993 
las@umn.edu

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.  

Honors

1982    Phi Beta Kappa, Johns Hopkins
1990    Individual National Research Service Award
1991    SPR, Fellow's Basic Research Award
1994    University of Minnesota, Fellow Research Award
1995    Mentored Clinical Scientist Award, K08
2004    Elected Member, Society for Pediatric Research
2005    Elected Fellow, American College of Medical Genetics
2005    Outstanding Faculty Educator Award, Department of Pediatrics, University of Minnesota

Selected Publications

Michael R. Eccles and Lisa A. Schimmenti (1999) Renal-coloboma syndrome; a multisystem  disorder caused by PAX2 mutations. Clinical Genetics 59:1-9.

Gary W. Chung, Albert O. Edwards, Lisa A. Schimmenti, Glenda S. Manligas, Yao-Hua Zhang, Robert Ritter (2001) Renal-Coloboma Syndrome: Report of a novel PAX2 gene mutation. American Journal of Ophthalmology 132:910-914.

LA Schimmenti, J dela Cruz , JD Karkera, , GS Manligas, E Roessler, M Muenke (2003) A novel mutation in Sonic Hedgehog in non-syndromic colobomatous microphthalmia.  American Journal of Medical Genetics 116A:215–221.

Ariadna Martinez, Joyce Linden, *Lisa A. Schimmenti, *Christina G.S.Palmer (shared last author) (2003) Hearing status influences attitudes toward genetic testing for deafness. Genetics in Medicine 5:1-7.

P. J. Taub, J. P. Bradley, Y.  Setoguchi, L. Schimmenti, H.K. Kawamoto Jr. (2003) Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients.  American Journal of Medical Genetics 120A(2):256-260.

Lisa A. Schimmenti, Glenda S. Manligas, Paul A. Sieving (2003) Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genetics 24: 191-202.

Christina G.S. Palmer, Ariadna Martinez, Michelle Fox, Barbara Crandall, Nina Shapiro, Milhan Telatar, Yvonne Sininger, Wayne W. Grody, Lisa A. Schimmenti (2003) Genetic Testing and the Early Hearing Detection and Intervention Process. The Volta Review 103:371-390.

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.

Eric A Crombez, Mildred Bay, Katrina M Dipple, Lisa A Schimmenti*, Nagesh Rao* (2005) (*shared last author) Ring Chromosome 21 with a duplication of the Down Syndrome critical region. Clinical Dysmorphology 14:183-187.

Christina G.S. Palmer, Ariadna Martinez, Yvonne Sininger, Nina Shapiro, Wayne W. Grody, Lisa A. Schimmenti (2005) Commentary:  Prelingual siblings of children with GJB2 hearing loss: Issues to consider. Archives of Otolaryngology 131:10020-1023.

Christine Hills, James H. Moller, Marsha Finkelstein, Jamie Lohr, Lisa Schimmenti (2006) Cri du Chat Syndrome and Congenital Heart Disease:  A Review of Previously Reported Cases and Presentation of an Additional 21 Cases from the Pediatric Cardiac Care Consortium.  Pediatrics 117:e924-e927.

Christine B. Hills, Lisa A. Schimmenti, Lee A. Pyles, Antionette M. Moran, Sixto F. Guiang (2006) September in the NICU: A Down Syndrome Infant is feeding poorly. Contemporary Pediatrics.
(onlinehttp://www.contemporarypediatrics.com/contpeds/article/articleDetail.jsp?id=364741&pageID=1&sk=&date=).

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 (2006) Expanded newborn screening identifies maternal primary carnitine deficiency. Molecular Genetics and Metabolism November 23 [epub ahead of print].

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.

Terri Blase Ariadna Martinez, Wayne W. Grody, Lisa Schimmenti, Christina G.S. Palmer (2007) Sharing GJB2/GJB6 Genetic Test Information with Family Members. Journal of Genetic Counseling [2007 Feb 23; Epub ahead of print] PMID: 17318457.