RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin (Orexin) Receptor 2 Gene

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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

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Cloning and sequencing of the cDNA encoding an isoform of microtubule‐associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain.

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A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

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Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

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Splicing mutations in human genetic disorders: Examples, detection, and confirmation

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Secretion and localized transcription suggest a role in positional signaling for products of the segmentation gene hedgehog

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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

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Differential GC content between exons and introns establishes distinct strategies of splice-site recognition

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SpliceAid 2: a database of human splicing factors expression data and RNA target motifs

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Position-dependent alternative splicing activity revealed by global profiling of alternative splicing events regulated by PTB

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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

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HumanMinibrainHomologue (MNBH/DYRK1): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome

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Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Schwarze, U., Hata, R.-I., McKusick, V. A., Shinkai, H., Hoyme, H. E., Pyeritz, R. E., & Byers, P. H. (2004) · The American Journal of Human Genetics · doi:10.1086/420794 · Cited by 180

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

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Mutation Detection in the and Alleles of the Sodium Channel

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Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

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Genomic structure and functional characterization of the human ADAM10 promoter

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Triple Trans-Splicing Adeno-Associated Virus Vectors Capable of Transferring the Coding Sequence for Full-Length Dystrophin Protein into Dystrophic Mice

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Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

Vreeswijk, M. P. G., Kraan, J. N., van der Klift, H. M., Vink, G. R., Cornelisse, C. J., Wijnen, J. T., Bakker, E., van Asperen, C. J., & Devilee, P. (2009) · Human Mutation · doi:10.1002/humu.20811 · Cited by 98

Genomic mapping of RNA polymerase II reveals sites of co-transcriptional regulation in human cells

Brodsky, A. S., Meyer, C. A., Swinburne, I. A., Hall, G., Keenan, B. J., Liu, X. S., Fox, E. A., & Silver, P. A. (2005) · Genome Biology · doi:10.1186/gb-2005-6-8-r64 · Cited by 94

Molecular cloning, gene organization and expression of the human UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Bloch-Zupan, A., Rey, T., Jimenez-Armijo, A., Kawczynski, M., Kharouf, N., O-Rare consortium, Dure-Molla, M. D. L., Noirrit, E., Hernandez, M., Joseph-Beaudin, C., et al. (2023) · Frontiers in Physiology · doi:10.3389/fphys.2023.1130175 · Cited by 74

Urogenital and caudal dysgenesis in adrenocortical dysplasia ( acd ) mice is caused by a splicing mutation in a novel telomeric regulator

Keegan, C. E., Hutz, J. E., Else, T., Adamska, M., Shah, S. P., Kent, A. E., Howes, J. M., Beamer, W. G., & Hammer, G. D. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi011 · Cited by 68

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Kröll‐Hermi, A., Ebstein, F., Stoetzel, C., Geoffroy, V., Schaefer, E., Scheidecker, S., Bär, S., Takamiya, M., Kawakami, K., Zieba, B. A., et al. (2020) · EMBO Molecular Medicine · doi:10.15252/emmm.201911861 · Cited by 65

Characterization of an ankyrin repeat-containing Shank2 isoform (Shank2E) in liver epithelial cells

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Genomic structures of SCN2A and SCN3A – candidate genes for deafness at the DFNA16 locus

Kasai, N., Fukushima, K., Ueki, Y., Prasad, S., Nosakowski, J., Sugata, K.-I., Sugata, A., Nishizaki, K., Meyer, N. C., & Smith, R. J. H. (2001) · Gene · doi:10.1016/s0378-1119(00)00594-1 · Cited by 43

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype

NICHOLLS, A. C., VALLER, D., WALLIS, S., & POPE, F. M. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.2.132 · Cited by 40

Synthetic Intron Improves Transduction Efficiency of Trans -Splicing Adeno-Associated Viral Vectors

Lai, Y., Yue, Y., Liu, M., & Duan, D. (2006) · Human Gene Therapy · doi:10.1089/hum.2006.17.1036 · Cited by 37

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

González-del Pozo, M., Fernández-Suárez, E., Bravo-Gil, N., Méndez-Vidal, C., Martín-Sánchez, M., Rodríguez-de la Rúa, E., Ramos-Jiménez, M., Morillo-Sánchez, M. J., Borrego, S., & Antiñolo, G. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00286-0 · Cited by 21

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62347 · Cited by 20