Lisa A. Schimmenti, MD

Associate Professor, Department of Ophthalmology and Visual Neurosciences

Lisa A. Schimmenti

Contact Info

las@umn.edu

Mailing Address:
MMC 730
420 Delaware St. SE
Minneapolis, MN 55455

Medical School, Albert Einstein College of Medicine

Residency, Harbor - UCLA Medical Center

Fellowship, Yale New Haven Medical Center, New Haven CT (Pediatric Critical Care)

Fellowship, University of Minnesota (Genetics and Metabolism)

Summary

Awards & Recognition

  • Outstanding Faculty Educator Award, Department of Pediatrics, University of Minnesota, 2005
  • Elected Fellow, American College of Medical Genetics, 2005
  • Elected Member, Society for Pediatric Research, 2004

Research

Research Summary/Interests

  • Genetic basis of neurosensory conditions

Publications

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.

Clinical

Specialties

  • Genetic and metabolic disorders, Diagnostic services for children with birth defects and developmental disabilities, including autism, Genetic services for children identified to be deaf, Genetic services for children with visual impairment

Board Certifications

American Board of Pediatrics, American Board of Medical Genetics

Clinical Experience Statement

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.