Human Genetics

Elizabeth K. Schorry, MD

Title

Director, Neurofibromatosis Clinic

Director, Adult Neurofibromatosis Clinic

Appointment

Associate Professor of Clinical Pediatrics, University of Cincinnati College of Medicine

Email

elizabeth.schorry@cchmc.org

Phone

513-636-4760

Fax

513-636-7297

Bio

Elizabeth Schorry, MD, received her undergraduate degree at the University of Cincinnati and her MD at the University of Michigan, Ann Arbor, Mich.

Dr. Schorry completed a residency in Pediatrics and a fellowship in Medical Genetics at Children's Hospital Medical Center, Cincinnati, Ohio. She has been a faculty member in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center since 1988.

Dr. Schorry provides medical management, genetic assessment and genetic counseling for children with a wide range of genetic disorders and congenital anomalies. She has a special interest in neurofibromatosis, tuberous sclerosis, and fetal alcohol syndrome.

Credentials

BS: Biology, University of Cincinnati, Cincinnati, OH, 1977.

MD: University of Michigan, Ann Arbor, MI, 1982.

Residency: Pediatrics, Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.

Fellowship: Genetics, Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.

Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.

Awards and Honors

Honoree of the local neurofibromatosis foundation, 1997

Research

Dr. Schorry's research is focused on clinical studies in neurofibromatosis, including: natural history of bone complications of NF1; learning and behavioral problems in NF1; and drug trials for plexiform neurofibromas and other NF-related tumors.

Research Grants and Contracts

Spinal abnormalities in neurofibromatosis type 1
NIH (R01)3/1/06 – 2/28/10
PI: D. Viskochil, Univ. of Utah
Percent effort – 10%
Role: Co-investigator in multi-center study

Neurofibromatosis Consortium
U.S. Dept. of Defense (CDMRP, NFRP)
3/1/2007 – 3/2012
Amount - $6,000,000
PI: Jeannette Lee, University of Alabama
Role: Local PI for 9 center consortium for drug trials for NF

Presentations

Schorry EK, Rieley MB, Jain V, Crawford AH. Scoliosis in neurofibromatosis type 1: A retrospective review. NF Conference 2008, Bonita Springs, FL, June 7, 2008.

Schorry EK, Saul RA. Moderators for Concurrent Platform Session 29: Clinical Genetics: Genotypes and Phenotypes, American Society of Human Genetics Meeting, New Orleans, LA, Oct. 11, 2006.

Schorry EK. Neurocognitive aspects of NF1: Recommendations for clinical guidelines and outcome measures. Presented at the Children’s Tumor Foundation Clinical Care & Outcomes satellite meeting, Aspen, CO, June 4, 2006.

Schorry EK, Crawford AH. Spinal abnormalities in NF1. Presentated at the Neurofibromatosis Symposium 2005, Salt Lake City, Utah, October 27, 2005.

Schorry EK, Keddache M, Abiramikumar B, Lanphear N, Rubinstein J, Grabowski GA. Genotype-Phenotype correlations in Rubinstein-Taybi Syndrome. Platform presentation at the American Society of Human Genetics 55th Annua Meeting, Salt Lake City, Utah, 2005.

Saal HM, Bao L, Schorry EK, Hopkin RJ, Leslie ND, Smokarek T. Paucity of primary identification of new cryptic subtelomere rearrangements with subtelomere FISH: A three year retrospective analysis. Presented at the 26th Annual David W. Smith Workshop, Iowa City, Iowa, August 2005.

Publications, Most Recent

Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, L. Armstrong, Birch P, Kendler DL, Mundlos S, Yang F-C, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options.Bone, in review.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Fletcher D, Srodulski S, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome.Amer J Med Genet 2008;146A:2512-9.

Reiter-Purtill J, Schorry EK, Lovell AM, Vannatta K, Gerhardt CA, Noll RB. Parental distress, family functioning, and social support in families with and without a child with neurofibromatosis 1.J Pediatr Psychol 2008;33(4):422-34.

Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D’Astous J, Murray KA, Friedman JM, Armstrong L, Carey JC. The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.Genetics in Medicine 2007;9(7):409-12.

Noll RB, Reiter-Purtill J, Moore BD, Schorry EK, Lovell A, Vannatta K, Gerhardt CA. Social, emotional and behavioral functioning of children with NF1.Amer J Med Genet A 2007;143(19):2261-73.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.Amer J Med Genet A 2007;143(3):265-70.

Crawford AH, Shorry EK. Neurofibromatosis. In: Pediatric Orthopaedic Secrets, 3rd Ed, 537-543, 2007.

Crawford AH, Parikh S, Schorry EK, VonStein D. Symposium on the Immature Spine: The Immature Spine in Neurofibromatosis type 1.J Bone Joint Surgery 2007;89:123-42.

Tinkle BT, Miller E, Schorry EK. Gene symbol: COL1A2. Disease:osteogenesis imperfects type II.Hum Genet 2006;119(6):667.

Crawford AH, Schorry EK. Neurofibromatosis Update.J Ped Orthopaedics 2006;26(3):412-23.

Wedig KE, Kogan J, Schorry EK, Whitsett JA. Skeletal demineralization and fractures caused by fetal magnesium toxicity.J Perinatol 2006;26:371-4.

Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM. Epidemiology of Hemimegalencephaly: A case series and review.Amer J Med Genet 2005;139A:204-11.

Bao L, Schorry EK. A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother.Amer J Med Genet 2005;138A(4):361-4.

Schorry EK, Oppenheimer SG, Saal HM. Valproate embryopathy: Clinical and cognitive profile in 5 siblings.Amer J Med Genet 2005;133A:202-6.