|
1. Wang CY, Bassuk AG, Boise LH, Thompson CB, Bravo R, Leiden JM. Activation of the granulocyte-macrophage colony-stimulating factor promoter in T cells requires cooperative binding of Elf-1 and AP-1 transcription factors. Mol Cell Biol 1994; 14: 1153-1159.
2. Bassuk AG, Leiden JM. A direct physical association between ETS and AP-1 transcription factors in normal human T cells. Immunity 1995; 3: 223-237. Role: Designed and performed all experiments, co-wrote paper. 3. Bassuk AG, Anandappa RT, Leiden JM. Physical interactions between Ets and NF-kappaB/NFAT proteins play an important role in their cooperative activation of the human immunodeficiency virus enhancer in T cells. J Virol 1997; 71: 3563-3573. 4. Bassuk AG, Barton KP, Anandappa RT, Lu MM, Leiden JM. Expression pattern of the Ets-related transcription factor Elf-1. Mol Med 1998; 4: 392-401. 5. Bassuk AG, Burrowes DM, McRae W. Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours. Neurology 2003; 60: 1552-1553. 6. Bassuk AG, Burrowes DM, Velimirovic B, Grant J, Keating GF. A child with spinal cord AVM presenting with raised intracranial pressure. Neurology 2003; 60: 1724-1725. 7. Bassuk AG, Joshi A, Burton BK, Larsen MB, Burrowes DM, Stack C. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology 2003; 61: 1014-1015. 8. Bassuk AG, Keating GF, Stumpf DA, Burrowes DM, Stack C. Systemic lymphoma mimicking acute disseminated encephalomyelitis. Pediatr Neurol 2004; 30: 129-131. 9. Bassuk AG, McLone D, Bowman R, Kessler JA. Autosomal dominant occipital cephalocele. Neurology 2004; 62: 1888-1890. 10. Benz LP, Swift FE, Graham FL, Enterline DS, Melvin EC, Hammock P, Gilbert JR, Speer MC, Bassuk AG, Kessler JA, George TM. TERC is not a major gene in human neural tube defects. Birth Defects Res A Clin Mol Teratol 2004; 70: 531-533. 11. Bassuk AG, Craig D, Jalali A, Mukhopadhyay A, Kim F, Charrow J, Gulbu U, Epstein LG, Bowman R, McLone D, Yagi H, Matsuoka R, Stephan DA, Kessler JA. The genetics of tethered cord syndrome. Am J Med Genet A 2005; 132: 450-453. 12. Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet 2005; 117: 133-142. 13. Deak KL, Dickerson ME, Linney E, Enterline DS, George TM, Melvin EC, Graham FL, Siegel DG, Hammock P, Mehltretter L, Bassuk AG, Kessler JA, Gilbert JR, Speer MC. 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 2005; 73: 868-875. 14. Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell LE, Oakes WJ, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. J Med Genet 2005; 42: 940-946. 15. Sebold CD, Melvin EC, Siegel D, Mehltretter L, Enterline DS, Nye JS, Kessler J, Bassuk A, Speer MC, George TM. Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele. Genet Med 2005; 7: 64-67. 16. Bassuk AG, Mohile NA, Stack C. T-cell lymphoma presenting with neurologic features in immunocompetent children. Pediatr Neurol 2006; 35: 314-317. 17. Boyles AL, Billups AV, Deak KL, Siegel DG, Mehltretter L, Slifer SH, Bassuk AG, Kessler JA, Reed MC, Nijhout HF, George TM, Enterline DS, Gilbert JR, Speer MC. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environ Health Perspect 2006; 114: 1547-1552. 18. Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, Bennett CL. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics 2007; 8: 45-49. 19. Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet 2007; 44: 492-497. 20. Kan L, Jalali A, Zhao LR, Zhou X, McGuire T, Kazanis I, Episkopou V, Bassuk AG, Kessler JA. Dual function of Sox1 in telencephalic progenitor cells. Dev Biol 2007; 310: 85-98. 21. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 2007; 3: e80. 22. Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008; 83: 572-581. A New, Progressive Myoclonic Epilepsy: Is It a Chronicle of the Noncanonical or a Failure to REST? Epilepsy Curr. 2009 May; 9(3): 82-84. , and A prickly cause of progressive myoclonic epilepsy Clin Genet. 2009 Mar;75(3):225-6. 23. Epstein LG, Jalali A, Chary AN, Khan S, Ross J, Coppinger J, Carlson K, Charrow J, Burton B, Zimmerman D, Curran J, Kim F, Nguyen P, Burrowes D, Angle B, Stack C, Shaffer L, Kessler JA, Bassuk AG. Neuroimaging findings in children with rare or novel de novo chromosomal anomalies. Birth Defects Res A Clin Mol Teratol 2008; 82: 200-210. 24. Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet 2008; 123: 237-245. 25. Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009; 84: 44-51. 26. Kibar Z, Bosoi CM, Kooistra M, Salem S, De Marco P, Merello, E, Bassuk, AG, Capra, V, and Gros, P. Novel Mutations In Vangl1 In Neural Tube Defects. Human Mutation. 2009:30(7) E706-715. 27. Shrimpton A, Kessler JA, Shaffer LG, Stack C, Jalali A, Little R, Goldstein J, Angle, B, Chary A, Coppinger J, Mathison DJ, Khan BA, Poznanski AK, DobynsWB, Craig DW, Hoo J, Sarco D, Bassuk AG. Variability of Epilepsy, Autism, Brachydactyly, and Other Clinical Features in Familial and Sporadic 2q37.3 Deletion. Journal of Pediatric Neurology. 2009;7(3) 279-282. 28. Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, L Canafoglia L, Wallace R, Bassuk AG, DA, Tassinari CA, Andermann E, Lehesjok AE, Berkovic SF. SCARB2 mutations in progressive myoclonus epilepsy without renal failure. Ann Neurol 2009, Oct;(66)4:532-6. 29. Aldinger AA, Lehman OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy Walker malformation; Nature Genetics 2009, Sep;41(9):1037-42. 30. Mefford, HC, Muhle, H, Ostertag, P, Spiczak, CB, Franke, A, Malafosse, A, Genton, P, Thomas, P, Gurnett, GA, Schreiber, S, Bassuk, AG, Guipponi, M, Stephani, U, Helbig,, I, Eichler, EE. Rare structural variants reveal novel susceptibility loci in idiopathic generalized and focal epilepsies. In press to PLOS Genetics. 31. Mahajan, V.B., Olney, A.H., Garrett, P, Chary A, Dragan, E., Lerner, G., Murray, J, and Bassuk A.G. Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia . In Press, American Journal of Medical Genetics. 32. Kibar Z, Salem S, Pauels E, Bassuk AG, Capra V, DeMarco P, Merello E, and Gros P. Contribution of VANGL2 mutations to isolated neural tube defects. In Press, Clinical Genetics. |