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Paper

Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., Krainer, A. R. (January 2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet, 78 (1). pp. 63-77. ISSN 0002-9297 (Print)

Wicklow, B. A., Ivanovich, J. L., Plews, M. M., Salo, T. J., Noetzel, M. J., Lueder, G. T., Cartegni, L., Kaback, M. M., Sandhoff, K., Steiner, R. D., Triggs-Raine, B. L. (June 2004) Severe subacute G(M2) gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mmRNA. American Journal of Medical Genetics Part A, 127A (2). pp. 158-166. ISSN 0148-7299

Cartegni, L., Wang, J. H., Zhu, Z. W., Zhang, M. Q., Krainer, A. R. (July 2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Research, 31 (13). pp. 3568-3571. ISSN 0305-1048

Cartegni, L., Krainer, A. R. (February 2003) Correction of disease-associated exon skipping by synthetic exon-specific activators. Nature Structural Biology, 10 (2). pp. 120-125. ISSN 1072-8368

Cartegni, L., Krainer, A. R. (April 2002) Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature Genetics, 30 (4). pp. 377-384. ISSN 1061-4036

Cartegni, L., Chew, S. L., Krainer, A. R. (April 2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nature Reviews Genetics, 3 (4). pp. 285-298. ISSN 1471-0056

Dance, G. S. C., Sowden, M. P., Cartegni, L., Cooper, E., Krainer, A. R., Smith, H. C. (April 2002) Two proteins essential for apolipoprotein B mRNA editing are expressed from a single gene through alternative splicing. Journal of Biological Chemistry, 277 (15). pp. 12703-12709. ISSN 0021-9258

Liu, H. X., Cartegni, L., Zhang, M. Q., Krainer, A. R. (January 2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genetics, 27 (1). pp. 55-58. ISSN 1061-4036

Liu, H. X., Chew, S. L., Cartegni, L., Zhang, M. Q., Krainer, A. R. (February 2000) Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Molecular and Cellular Biology, 20 (3). pp. 1063-1071. ISSN 0270-7306