Brad T. Tinkle, MD, PhD
Title
Clinical Geneticist
Assistant Director, Molecular Genetics Laboratory, Division of Human Genetics
Appointment
Assistant Professor of Pediatrics, Affiliated, University of Cincinnati College of Medicine
Email
bradley.tinkle@cchmc.org
Phone
513-636-0121
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 Syndrome Clinic
Director, Skeletal Dysplasia Center
Director, Connective Tissue Clinic
Research
- Management of connective tissue disorders
- Natural history of Ehlers-Danlos syndrome
- Clinical trials
- Discovery of new causative genes in connective tissue disorders
Research Grants and Contracts
Identifying new genes in connective tissue disorders.
Novel High-Throughput System for Identification of Candidate Causative Genes in Bone Disorders.
Publications, Most Recent
Z Yazici, B Kline-Fath, T Laor,BT Tinkle (2010). Fetal MR imaging of Kniest dysplasia. Pediatr Radiol
Tinkle BT,Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D (2009). The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome).Am J Med GenetA 149A: 2368-70.
M Ednick, BT Tinkle, J Phromchairak, J Egelhoff, R Amin, N Simakajornboon (2009). Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy period. J Pediatr155:510-5.
Y Zarate, R Mena, LJ Martin, P Steele, BT Tinkle, RJ Hopkin (2009). Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet 149A:1691-7.
N Leslie, BT Tinkle, K Shooner, K Zhang, A Strauss (2009). Very long chain acyl-coenzyme A dehydrogenase deficiency. GeneReviews.
Mattheis PJ, Hickey F, Tinkle BT, Hopkin R: Prenatal diagnosis: beyond decisions about termination. J Pediatr. 2008; 153:728.
Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA: Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007; 19:628-635.
Sutherell J, Zarate Y, Tinkle BT, Markham L, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB Jr.: Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congent Heart Dis. 2007; 2:342-6.
Tinkle BT, Leslie ND: Glycogen storage disease type 2. GeneReviews. 2007.
Tinkle B: Reducing your genetic fear factor. CincyChic, published online, Nov 12, 2007.
Tinkle B: Gene Symbol:FBN1. Hum Genet. 2007; 121:294.
Tinkle BT, Miller E, Schorry EK: Gene symbol:COL1A2. Disease: osteogenesis imperfecta type II. Hum Genet. 2007; 119:677.
Tinkle BT, Grabowski GA: Storage Disorders. Pediatric Hematology, 3rd ed. (Hann IM, Arceci RJ, and Smith OP, edd.), 2006. Blackwell Publishing Ltd, Oxford, pp 778-91.
Tinkle BT, Wenstrup RJ: A genetic approach to fracture epidemiology in childhood. Am J Med Genet. 2005; 139C:38-54.
Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM: Epidemiology of hemimegalencephaly: A case series and reviews. Am J Med Genet. 2005; 139A:204-11.
Tinkle BT, Hopkin RJ, Grabowski G: Enzyme therapy in Fabry disease. Today's Therapeutic Trends, 2004; 22(3): 181-200.
Tinkle BT, Saal HM: 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 BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ: Long-term survival in a patient with del(18)(q12.2q21.1). Am J Med Genet. 2003; 119A:66-70.
Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, Hopkin RJ: 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:90-5.
Tinkle BT, Jay G: Molecular approaches involved in mammalian gene transfer: Analysis of transgene integration. In: Transgenic Animal Technology: A Laboratory Handbook (CA Pinkert, Ed.), 2nd edition, 2002. Academic Press, San Diego.
Tinkle BT, Ueda H, Ngo L, Luciw PA, Shaw K, Rosen CA, Jay G: Transgenic dissection of HIV genes involved in lymphoid depletion. J Clin Invest. 1997; 100:32-9.
Tinkle BT, Ngo L, Luciw PA, Maciag T, Jay G: Human immunodeficiency virus-associated vasculopathy in transgenic mice. J Virol . 1997; 71:4809-14.
Han DK, Haudenschild CC, Hong MK, Tinkle BT, Leon MB, Liau G: Evidence for apoptosis in human atherogenesis and in a rat vascular injury model. Am J Pathol. 1995; 147:267-77.
Tinkle BT, Ueda H, Jay G: The pathogenic role of human immunodeficiency virus accessory genes in transgenic mice. Curr Top Microbiol Immunol. 1995; 193:133-56.
LaFerla FM, Tinkle BT, Bieberich CJ, Haudenschild CC, Jay G: The Alzheimer’s Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice. Nat Genet. 1995; 9:21-30.
Tinkle BT, Bieberich CJ, G Jay G: Molecular approaches involved in mammalian gene transfer: Analysis of transgene integration. In: Transgenic Animal Technology: A Laboratory Handbook (CA Pinkert, Ed.), 1994. Academic Press, San Diego, pp 221-34.
Bieberich CJ, King CM, Tinkle BT, Jay G: A transgenic model of transactivation by the Tax protein of HTLV-I. Virology 1993; 196:309-18.
Presentations, Most Recent
CL Atzinger, R Meyer, P Khoury, Z Gao, BT Tinkle (2009). Cross-Sectional and Longitudinal Assessment of Aortic Dilation in Ehlers-Danlos Syndrome. Presented at the annual American Society of Human Genetics Symposium in Honolulu, Hawaii, October 19-22.
B Tinkle, N Simakajornboon, E Acra, C Atzinger, T Do, H Saal, F Mangano (2009). Craniocervical junction stenosis in achondroplasia: clinical, radiographic, and Polysomnographic evaluation and treatment. American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, Mar 25-29.
N Leslie, A Strauss, B Tinkle, J Florer (2009). Molecular and enzymatic assessment of very long chain acyl-CoA dehydrogenase. American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, Mar 25-29.
“Joint Hypermobility in Student Athletes”, Pediatric Grand Rounds, Cincinnati Children’s Hospital Medical Center, November 3, 2009
“Approach to the Diagnosis and Expectant Management of Fetal Skeletal Dysplasias”, Fetal Care Center Ground Rounds, Cincinnati Children’s Hospital Medical Center, March 5, 2009
Tinkle BT, Peters S, Zhang K, Leslie N (2008). Genetic testing of GAA: a prompt and reliable diagnosis of Pompe disease. American Society of Human Genetics 58th Annual Meeting, Philadelphia, Nov 11-15 .
“Promoting Effective Interactions with Families of Children with Down Syndrome”, Pediatric Grand Rounds , Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, September 2, 2008.
“Sleep Disturbances in Ehlers-Danlos Syndrome”, Ehlers-Danlos National Foundation Conference, Houston, Texas, August 2, 2008.
“Skeletal Dysplasias and the Skeletal Dysplasia Center”, Pediatric Grand Rounds , Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, May 6, 2008.
“Sleep Disturbance in Ehlers-Danlos Syndrome”, Tristate Genetics Meeting, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, April 25, 2008.
“Heritable Connective Tissue Disorders with Cardiac Aspects” Cardiology Conference, Division of Pediatric Cardiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, Apr 21, 2008.
“Connective Tissue: Using Genetic Disorders to Understand the Role of Connective Tissue in Normal Function and Disease” Division of Molecular and Developmental Biology, Cincinnati Children’s Hospital Medical Center, Feb 7, 2008.
Zhang K, Johnson JA, Villanueva J, Tinkle B, Bleesing J, Fillipovich AH (2007). Genetic defects in patients with X-linked lymphoproliferative syndrome in North America. American Society of Human Genetics 57th Annual Meeting, San Diego, Oct 23-27.
“Ehlers-Danlos Syndrome”, Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, Sept 4, 2007.
Tinkle B, Promchairak J, Saal HM, Simakajornboon N (2007). Earliest evaluation for cervical cord pathology in achondroplasia detects those requiring cervical decompression in the first year of life. David W. Smith 25th Annual Workshop on Malformations and Morphogenesis, Williamsburg, VA, August 8-11.
Tinkle B, Bedard A, Greinwald J (2006). Synergistic effect of two connexin-26 mutations results in profound hearing loss and inner ear malformation. American Society of Human Genetics 56th Annual Meeting, New Orleans, Louisiana.
Tinkle BT, Cole W, Wenstrup R (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.
Tinkle BT, Schorry EK, and Saal HM (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.
Schorry EK, Tinkle BT, and Saal HM (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.
Tinkle BT, Schorry EK, Franz DN, Crone K, Saal HM (2003). Etiologies of Hemimegalencephaly: A Case Series. 22nd Annual Edward L. Pratt Lectures, Cincinnati Children's Hospital Medical Center. May 12, 2003.
Tinkle BT and Saal HM (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.
Tinkle BT, Walker ME, Saal HM, Hopkin RJ (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.
Professional Organization Memberships
American Medical Association
American Academy of Pediatrics
American Society of Human Genetics
American College of Medical Genetics
Books
Issues and Management of Joint Hypermobility: A guide for the Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome; 2008. Left Paw Press, Mason, OH.
Special Interests
- Connective tissue disorders
- Interventional genetics
- Molecular genetics
Advisory Boards
- Member, Medical Advisory Board, Down Syndrome Association of Greater Cincinnati, 2005 – Present
- Member, Medical Advisory Board, Ehlers-Danlos Syndrome National Foundation, 2007 – Present
Related Areas
This person works in these other areas at Cincinnati Children's Hospital Medical
Center:
