Duke Center for Human Genetics Duke University Medical CenterDuke University

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About our Studies

Study Disorders

Amyotrophic Lateral Sclerosis (ALS)

Anencephaly

Attention Deficit/Hyperactivity Disorder (AD/HD)

Chiari Malformations and Syringomyelia

Early Onset Cardiovascular Disease

Familial Focal Segmental Glomerulosclerosis (FSGS)

Glaucoma

Multiple Sclerosis (MS)

Myopia

Neural Tube Defects (NTD)

Ophthalmic Genetic Disorders

Sickle Cell Disease (SCD)


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Clinical Staff

Publications

Amyotropic Lateral Sclerosis (ALS)

Fang F, Kwee LC, Allen KD, Umbach DM, Ye W, Watson M, Keller J, Oddone EZ, Schmidt S*, Kamel F*.(2010) Association between blood lead and the risk of amyotrophic lateral sclerosis. American Journal of Epidemiology 171(10):1126-33. (*equal contributions). Pub Med ID 20406759.

Schmidt S, Kwee LC, Allen KD, Oddone EZ. (2010). Association of ALS with head injury, cigarette smoking and APOE genotypes.J Neurol Sci. 291(1-2):22-9.
Pub Med ID 20129626

Chiò A, Schymick JC, Restagno G, et al., Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 18:1524-1532.
Pub Med ID 19193627

Schmidt S, Allen KD, Loiacono VT, Norman B, Stanwyck CL, Nord KM, Williams CD, Kasarskis EJ, Kamel F, McGuire V, Nelson LM, Oddone EZ. Genes and Environmental Exposures in Veterans with Amyotrophic Lateral Sclerosis: the GENEVA study. Rationale, study design and demographic characteristics. Neuroepidemiology. 2008;30(3):191-204. Pub Med ID 18421219.

Li YJ, Pericak-Vance MA, Haines JL, Siddique N, McKenna-Yasek D, Hung WY, Sapp P, Allen CI, Chen W, Hosler B, Saunders AM, Dellefave LM, Brown RH Jr, Siddique T. Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. Neurogenetics 5(4):209-13, 2004.

Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown, Jr. RH. Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis. Am J Hum Genet 73:397-403, 2003.

Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Hentati F, Siddique T. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genetics 29(2): 160-165, 2001.

Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Rimmler JB, Daube JR, Nance M, Fan C, Kaplan J, Hung W-Y, Haines JL, Pericak-Vance MA, Horvitz HR, and Brown RH Jr. Linkage of familial amyotrophic lateral sclerosis with fronto-temporal dementia (ALS-FTD) to chromosome 9q21-q22. JAMA, 284(13): 1664-1669, 2000.

Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, Rimmler J, Hung W, Schlotter B, Ahmed A, Ben Hamida M, Hentati F, Siddique T. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2(1):55-60, 1998.

Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology 48(1):55-7, 1997.

Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 7(3):425-8, 1994.

Eubanks JH, Puranam RS, Kleckner NW, Bettler B, Heinemann SF, McNamara JO. The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 1:90(1):178-82, 1993.

Siddique T, Pericak-Vance MA, Brooks BR, Antel J, Roos RP, Munsat T, Phillips K, Warner K, Bias W, Siddique N, Hung W Y, and Roses AD. Exclusion mapping in familial amyotrophic lateral sclerosis (ALS). Neurology 38(1):270, 1988.

Siddique T, Pericak-Vance MA, Brooks BR, Bias W, Walker N, Siddique T, Hung W Y, and Roses AD. Linkage in familial amyotrophic lateral sclerosis (ALS). Cytogenet Cell Genet 46:692, 1987.

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