Duke Center for Human Genetics Duke University Medical CenterDuke University

   About Us   |   Education/Learning   |   Research/Services   |   Studies/Participation   |   News

About our Studies

Study Disorders

Amyotrophic Lateral Sclerosis (ALS)


Attention Deficit/Hyperactivity Disorder (AD/HD)

Chiari Malformations and Syringomyelia

Early Onset Cardiovascular Disease

Familial Focal Segmental Glomerulosclerosis (FSGS)


Multiple Sclerosis (MS)


Neural Tube Defects (NTD)

Ophthalmic Genetic Disorders

Sickle Cell Disease (SCD)

Study Participant FAQ
Clinical Staff


Chiari Type 1 Malformation/Syringomyelia

Markunas CA, Tubbs RS, Moftakhar R, Ashley-Koch AE, Gregory SG, Oakes WJ, Speer MC, Iskandar BJ. (2012) Clinical, radiological, and genetic similarities between patients with chiari type I and type 0 malformations. J Neurosurg Pediatrics 9:372-378

Boyles AL, Enterline DS, Hammock PH, Siegel DG, Slifer SH, Mehltretter L, Gilbert JR, Hu-Lince D, Stephan D, Batzdorf U, Benzel E, Ellenbogen R, Green BA, Kula R, Menezes A, Mueller D, Oro JJ, Iskandar BJ, George TM, Milhorat TH and Speer MC. (2006) Phenotypic definition of chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. Am J Med Genept Part A 140A:2776-2785.

Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, Ellenbogen RG, Milhorat TH, Hauser MA, George TM. (2003) Chiari Type I Malformation With or Without Syringomyelia: Prevalence and Genetics. Journal of Genetic Counseling 12(4):297.

Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH. (2000) A Genetic Hypothesis for Chiari Type 1 Malformation with or without Syringomyelia (CM1/S). Neurosurgical Focus 8(3):12.

Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert CM, Speer MC. (1999) Chiari I Malformation Redefined: Clinical, Radiographic and Genetic Features in 364 Symptomatic Patients. Journal of Neurosurgery 44:1005-1017.

Wolpert CM, Milhorat TH, Trinidad EM, Franklin AD, George TM, Enterline DS, Speer MC. (1998) Further Evidence for Familial Aggregation for Chiari type 1 malformation. American Society of Human Genetics 63: A124, 696.

Wolpert CM, Speer MC, Trinidad EM, Mu H, Gripps KW, Econs MJ, Alysworth AS, Milhorat TH. (1997) Association of Chiari Type 1 Malformation and Primary Empty Sella Turcica: Two Case Reports With Retrospective Data Review. American Society of Human Genetics 61: A116, 657.

Wolpert CM, Gripps KW, Mu H, Trinidad EM, Milhorat TH, Speer MC. (1996) Familial Aggregation of Chiari Type 1 Malformations in 8 Families. American Society of Human Genetics 59: A109, 599.

// top //

Home | Contact Us | Employment | Giving | Site Map