Human Genetics

Brad T. Tinkle, MD, PhD

Title

Assistant Director, Molecular Genetics Laboratory, Division of Human Genetics

Appointment

Assistant Professor of Pediatrics, Affiliated

Email

bradley.tinkle@cchmc.org

Phone

513-636-2438

Fax

513-636-7297

Credentials

PhD: George Washington University, Washington, DC, 1995.

MD: Indiana University, Indianapolis, IN, 1999.

Residency: Pediatrics / Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 2004.

Fellowship: Clinical Molecular Genetics, Cincinnati Children's Hospital Medical Center 2006.

Certification: Pediatrics, 2003; Clinical Genetics, 2005; Clinical Molecular Genetics, 2007.

Position History

Current Positions:

Clinical Geneticist, Division of Human Genetics

Assistant Director, Molecular Genetics Laboratory

Co-Director, Marfan/Ehlers-Danlos Clinic

Director, Skeletal Dysplasia Center

Director, Connective Tissue Clinic

Research

Clinical trials
Discovery of new causative genes in connective tissue disorders
Natural history of Ehlers-Danlos syndrome

Publications, Most Recent

GA Grabowski, RJ Hopkin, TA Burrow, ND Leslie, and BT Tinkle (in press). Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr.

J Sutherell, Y Zarate, BT Tinkle, L Markham, LH Cripe, JC Hyland, D Witte, RJ Hopkin, and RB Hinton, Jr. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congent Heart Dis. 2007.

BT Tinkle and N Leslie. Glycogen storage disease type 2. GeneReviews. 2007.

Tinkle, B.T.; Grabowski, G.A.: Storage Disorders. Pediatric Hematology, 3rd ed., 2006; pp 778-791.

Tinkle, B.T.; Wenstrup, R.J.: A genetic approach to fracture epidemiology in childhood.Am J Med Genet, 2005; 139C:38-54.

Tinkle, B.T.; Schorry, E.K.; Franz, D.N.; Crone, K.R.; Saal, H.M.: Epidemiology of hemimegalencephaly: A case series and reviews.Am J Med Genet, 2005; 139A:204-211.

Tinkle, B.T., Hopkin, R.J., and Grabowski, G. (2004). Enzyme therapy in Fabry disease.Today's Therapeutic Trends 22(3): 181-200.

Tinkle, B.T. and Saal, H.M.: Health and genetic risk impact on preventive behavior. Clinical Preventive Medicine, 2nd ed., 2004; (RS Lang and DD Hensrud, Ed.). AMA Press, New York.

Tinkle, B.T.; Christianson, C.A.; Schorry, E.K.; Webb, T.; Hopkin. R.J.: Long-term survival in a patient with del(18)(q12.2q21.1). Am J Med Genet, 2003; 119A:66-70.

Tinkle, B.T.; Walker, M.E.; Blough-Pfau, R.I.; Saal, H.M.; Hopkin, R.J.: Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Case report and review of the natural history. Am J Med Genet, 2003 118A:90-95.

Presentations, Most Recent

BT Tinkle, W Cole, and R Wenstrup (2005). A high-throughput analysis of candidate extracellular matrix genes in connective tissue disorders. American Society of Human Genetics 55th Annual Meeting, Salt Lake City, Utah.

BT Tinkle, EK Schorry, and HM Saal (2003). The etiologies of hemimegalencephaly: a case series review. David W. Smith 24th Annual Workshop on Malformations and Morphogenesis, The University of British Columbia, Vancouver, British Columbia, Canada. August 7-11, 2003.

EK Schorry, BT Tinkle, and HM Saal (2003). Variability of expression of neurofibromatosis 1 in monozygotic twins. David W. Smith 24th Annual Workshop on Malformations and Morphogenesis, The University of British Columbia, Vancouver, British Columbia, Canada. August 7-11, 2003.

BT Tinkle, EK Schorry, DN Franz, K Crone, and HM Saal (2003). Etiologies of Hemimegalencephaly: A Case Series. 22nd Annual Edward L. Pratt Lectures, Cincinnati Children's Hospital Medical Center. May 12, 2003.

BT Tinkle and HM Saal (2002). An atypical lethal acrofacial dysostosis syndrome. Presented at the American Society of Human Genetics 52nd Annual Meeting, Baltimore, MD. Abstract printed in The American Journal of Human Genetics 71 (Supp): 256.

BT Tinkle, ME Walker, HM Saal, and RJ Hopkin (2002). Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22. American College of Medical Genetics Annual Symposium, New Orleans, LA. Abstract printed in Genetics in Medicine 4(3):200.