Browse by CSHL Author

Roca, X., Akerman, M., Gaus, H., Berdeja, A., Bennett, C. F., Krainer, A. R. (May 2012) Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides. Genes & Development, 26 (10). pp. 1098-109. ISSN 1549-5477 (Electronic)0890-9369 (Linking)

Kubota, T., Roca, X., Kimura, T., Kokunai, Y., Nishino, I., Sakoda, S., Krainer, A. R., Takahashi, M. P. (July 2011) A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia. Human Mutation, 32 (7). pp. 773-782. ISSN 10597794 (ISSN)

Bernard Chera, T.H. , Sing Chana, H. , Kleinb, G. F. , Jabkowskib, J. , Schadenböck-Kranzlc, G. , Zachd, O. , Roca, X., Alex Law, S.K. (January 2011) A novel 3′ splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1star, open. Biochemical and Biophysical Research Communications, 404 (4). pp. 1099-1104. ISSN 0006-291X

Roca, X., Krainer, A. R. (March 2009) A splicing component adapted to gene silencing. Nat Biotechnol, 27 (3). pp. 250-1. ISSN 1546-1696 (Electronic)1087-0156 (Linking)

Roca, X., Krainer, A. R. (February 2009) Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA. Nat Struct Mol Biol, 16 (2). pp. 176-182.

Roca, X., Olson, A. J., Rao, A. R., Enerly, E., Kristensen, V. N., Borresen-Dale, A. L., Andresen, B. S., Krainer, A. R., Sachidanandam, R. (January 2008) Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res, 18 (1). pp. 77-87.

Vela, E., Hilari, J. M., Roca, X., Muñoz-Mármol, A. M., Ariza, A., Isamat, M. (December 2007) Multisite and bidirectional exonic splicing enhancer in CD44 alternative exon v3. RNA, 13 (12). pp. 2312-2323.

Wimmer, K., Roca, X., Beiglbock, H., Callens, T., Etzler, J., Rao, A. R., Krainer, A. R., Fonatsch, C., Messiaen, L. (June 2007) Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5 ' splice-site disruption. Human Mutation, 28 (6). pp. 599-612. ISSN 1059-7794

Khoo, B., Roca, X., Chew, S. L., Krainer, A. R. (January 2007) Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. BMC Molecular Biology, 8. ISSN 1471-2199

Sheth, N., Roca, X., Hastings, M. L., Roeder, T., Krainer, A. R., Sachidanandam, R. (2006) Comprehensive splice-site analysis using comparative genomics. Nucleic Acids Res, 34 (14). pp. 3955-3967. ISSN 1362-4962 (Electronic)

Madsen, P. P., Kibæk, M., Roca, X., Sachidanandam, R., Krainer, A. R., Christensen, E., Steiner, R. D., Gibson, K. M., Corydon, T. J., Knudsen, I., Wanders, R. J. A., Ruiter, J. P. N., Gregersen, N., Andresen, B. S. (2006) Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Human Genetics, 118 (6). pp. 680-690. ISSN 03406717

Roca, Xavier, Sachidanandam, Ravi, Krainer, Adrian R. (May 2005) Determinants of the inherent strength of human 5' splice sites. Rna, 11 (5). pp. 683-98. ISSN 1355-8382 (Print)

Roca, X., Sachidanandam, R., Krainer, A. R. (November 2003) Intrinsic differences between authentic and cryptic 5 ' splice sites. Nucleic Acids Research, 31 (21). pp. 6321-6333. ISSN 0305-1048