Systematic Identification and Analysis of Exonic Splicing Silencers von Wang, Zefeng, Rolish, Michael E., Yeo, Gene, Tung, Vivian, Mawson, Matthew, Burge, Christopher B.

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Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation von Tucker, Elena J., Hershman, Steven G., Köhrer, Caroline, Belcher-Timme, Casey A., Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M., McKenzie, Matthew, Ryan, Michael T., Compton, Alison G., Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L., Thorburn, David R., Mootha, Vamsi K.

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Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants von Gardner, Jessica C., Liew, Gerald, Quan, Ying-Hua, Ermetal, Burcu, Ueyama, Hisao, Davidson, Alice E., Schwarz, Nele, Kanuga, Naheed, Chana, Ravinder, Maher, Eamonn R., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., Cheetham, Michael E., Liebelt, Jan, Ruddle, Jonathan B., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.

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A Common Haplotype in the Complement Regulatory Gene Factor H (HF1/CFH) Predisposes Individuals to Age-Related Macular Degeneration von Hageman, Gregory S., Anderson, Don H., Johnson, Lincoln V., Hancox, Lisa S., Taiber, Andrew J., Hardisty, Lisa I., Hageman, Jill L., Stockman, Heather A., Borchardt, James D., Gehrs, Karen M., Richard J. H. Smith, Silvestri, Giuliana, Russell, Stephen R., Caroline C. W. Klaver, Barbazetto, Irene, Chang, Stanley, Yannuzzi, Lawrence A., Barile, Gaetano R., Merriam, John C., Smith, R. Theodore, Olsh, Adam K., Bergeron, Julie, Zernant, Jana, Merriam, Joanna E., Gold, Bert, Dean, Michael, Allikmets, Rando, Nathans, Jeremy

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Pre-mRNA secondary structures influence exon recognition von Hiller, Michael, Zhang, Zhaiyi, Backofen, Rolf, Stamm, Stefan

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Gene variants of coagulation related proteins that interact with SARS-CoV-2 von Holcomb, David, Alexaki, Aikaterini, Hernandez, Nancy, Hunt, Ryan, Laurie, Kyle, Kames, Jacob, Hamasaki-Katagiri, Nobuko, Komar, Anton A, DiCuccio, Michael, Kimchi-Sarfaty, Chava

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Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 von Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group

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Biochemical Characterization of Pathogenic Mutations in Human Mitochondrial Methionyl-tRNA Formyltransferase von Sinha, Akesh, Köhrer, Caroline, Weber, Michael H.W., Masuda, Isao, Mootha, Vamsi K., Hou, Ya-Ming, RajBhandary, Uttam L.

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Inference of splicing regulatory activities by sequence neighborhood analysis von Stadler, Michael B, Shomron, Noam, Yeo, Gene W, Schneider, Aniket, Xiao, Xinshu, Burge, Christopher B

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Systematic evaluation of the effect of common SNPs on pre-mRNA splicing von ElSharawy, Abdou, Hundrieser, Bernd, Brosch, Mario, Wittig, Michael, Huse, Klaus, Platzer, Matthias, Becker, Albert, Simon, Matthias, Rosenstiel, Philip, Schreiber, Stefan, Krawczak, Michael, Hampe, Jochen

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Biallelic DICER1 mutations occur in Wilms tumours von Wu, MK, Sabbaghian, N, Xu, B, Addidou-Kalucki, S, Bernard, C, Zou, D, Reeve, AE, Eccles, MR, Cole, C, Choong, CS, Charles, A, Tan, TY, Iglesias, DM, Goodyer, PR, Foulkes, WD

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SAAMP 2.0: An algorithm to predict genotype‐phenotype correlation of lysosomal storage diseases von Ou, L., Przybilla, M.J., Whitley, C.B.

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Creation and disruption of protein features by alternative splicing -- a novel mechanism to modulate function von Hiller, Michael, Huse, Klaus, Platzer, Matthias, Backofen, Rolf

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RNA-Binding Protein-Mediated Alternative Splicing Regulates Abiotic Stress Responses in Plants von Guo, Ying, Shang, Xudong, Ma, Ligeng, Cao, Ying

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Alternative splicing in cancers: From aberrant regulation to new therapeutics von Song, Xiaowei, Zeng, Zhenyu, Wei, Huanhuan, Wang, Zefeng

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ExonSuite: Algorithmically optimizing alternative gene splicing for the PUF proteins von Ustek, Dilan, Kohrman, Abraham, Krstic, Bogdan, Fernandez, Karissa

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intronic element contributes to splicing repression in spinal muscular atrophy von Kashima, Tsuyoshi, Rao, Nishta, Manley, James L

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Exon identity crisis: disease-causing mutations that disrupt the splicing code von Sterne-Weiler, Timothy, Sanford, Jeremy R

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A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation von Bruun, Gitte Hoffmann, Doktor, Thomas Koed, Andresen, Brage Storstein

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A Computational Analysis of Sequence Features Involved in Recognition of Short Introns von Lim, Lee P., Burge, Christopher B.

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