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Alex Bassuk M.D., Ph.D.
alexander-bassukuiowadotedu
Assistant Professor of Pediatrics, Division of Neurolgy

Our laboratory is interested in understanding the basic mechanisms underlying both normal and disordered development of the nervous system. Our approach to these issues includes investigating the genetics of human neural tube defects (NTDs) and familial epilepsies, and elucidating the biology regulating neural stem cell development. The techniques used in our laboratory include genome wide linkage analysis (GWA), association studies, comparative genomic hybridization (CGH), copy number variation (CNV) analysis, transgenic mouse production, and cell culture. As part of our studies we have collected DNA samples from over 2000 patients and family members with congenital nervous system malformations, and several large families with autosomal recessive epilepsy syndromes.

Selected Publications

Bassuk, A.G., Keating, G.F., Stumpf, D.A., Burrowes, D.M., Stack, C. Systemic lymphoma mimicking disseminated encephalomyelitis. Pediatric Neurology 30, 129-131. 2004.

Bassuk, A.G., Mclone, D., Bowman, R., Kessler, J.A. Autosomal Dominant Occipital Cephalocele. Neurology, 62, 1888-1890. 2004.

Benz, L.P., Swift, F.E., Graham, F.L., Enterline, D.S., Melvin, E.C., Hammock, P., Gilbert, J.R., Bassuk, A.G., Kessler, J.A., Speer, M.C., George, T.M., and the NTD Collaborative Group. TERC is not a major gene in Human Neural Tube Defects. Birth Defects Research Part A Clinical and Molecular Teratology, 70,:531-3. 2004.

Bassuk, A.G., Jalali, A., Mukhopadyay, A., Epstein, L.G., Charrow, J., Uzel, G., Craig, D., Mclone, D.,

Bowman, R., Stephan, D., and Kessler, J.A. Genetics of Tethered Cord Syndrome. American Journal of Medical Genetics Part A, 132, 450-3.2005.

Sebold, C.D., Melvin, E.C., Siegel, D., Mehltretter, L., Enterline, D.S., Nye, J.S., Bassuk, A.G., Speer, M.C., and George, T.M. Recurrence Risks for Neural Tube Defects in Siblings of Patients with Lipomyelomeningocele. Genetics in Medicine 7, 64-7. 2005. Rampersaud E., Bassuk A.G., Enterline, D.S., M. T., Siegel, D.G., Melvin, E.C., Aben, J., Allen, J., Aylsworth, A., Brei T., Bodhurtha, J., Buran, C., Floyd, L.E., Hammock, P., Iskandar, B., Ito, J., Kessler, J.A., Lasarsky, N., Mack, P., Mackey, J., McLone, D., Meeropol, E., Mehltretter, L., Mitchell, L.E., Oakes, W.J., Nye, J.S., Powell, C., Sawin, K., Stevenson, R., Walker, M., West, S.G., Worley, G., Gilbert, J.R., Speer, M.C. Whole genome-wide linkage screen for Neural Tube Defects reveals regions of interest on chromosomes 7 and 10. Journal of Medical Genetic 12, 940-6. 2005.

Deak, K.L., Boyles, A.L., Etchevers, H..C, Melvin, E.C., Siegel, D.G., Graham, F.L., Slifer, S.H., Enterline, D.S., George, T.M., Vekemans, M., McClay, D., Bassuk, A.G., Kessler, J..A, Linney, .E, Gilbert, J.R., Speer, M.C.; NTD Collaborative Group. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Human Genetics 117, 133-42. 2005.

Deak K.L., Dickerson M.E., Linney E., Enterline D.S., George T.M., Melvin E.C., Graham F.L., Siegel D.G., Hammock P, Mehltretter L, Bassuk A.G., Kessler J.A., Gilbert J.R., Speer M.C.; NTD Collaborative Group.

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Res A Clin Mol Teratol 73, 868-75. 2005.

Bassuk, A.G., Mohile ,N.A., Stack ,C. T-cell lymphoma presenting with neurologic features in immunocompetent children Pediatr Neurol 35, 314-7. 2006

Bassuk, A.G., Chen, Y.Z., Bastish, S.D., Nagan ,N., Opal, P., Chance, P.F., Bennett, C.L. In cis autosomal dominant mutation of Sentaxin associated with tremor/ataxia syndrome. Neurogenetics, Epub ahead of print. 2006.

Lu, W., Quintero-Rivera, F., Fan1,Y., Alkuraya, F., Donovan, D.J., Xi, Q., Turbe-Doan, A., Li, Q., Campbell,C.G., Shanske, A.L., Pennacchio, L.A., Sherr, E., Ahmad, A., Peters, R., Rilliet, B., Parvex, P., Bassuk, A.G., Harris, D.J., Ferguson, H., Kelly, C., Walsh, C., Gronostajski, R.M., Higgins, A., Ligon, A.H., Quade, B.J., Morton, C.C., Gusella, J.F., and Maas, R.L. NFIA Haploinsufficiency is Associated with a CNS Malformation Syndrome and Urinary Tract Defects. PLoS Genet. 2007 May 25;3(5):e80.

Kan L., Jalali A., Zhao L.R., Zhou X., McGuire T., Kazanis I., Episkopou V., Bassuk, A.G, Kessler J.A. Dual function of Sox1 in telencephalic progenitor cells. In Press, Developmental Biology.