Exon identity crisis: disease-causing mutations that disrupt the splicing code

Frac-seq reveals isoform-specific recruitment to polyribosomes

(2013) T. Sterne-Weiler et al.   GENOME RESEARCH

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Landscape of transcription in human cells

(2012) Sarah Djebali et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

(2012) I. Medina et al.   NUCLEIC ACIDS RESEARCH

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Alternative Splicing of RNA Triplets Is Often Regulated and Accelerates Proteome Evolution

(2012) Robert K. Bradley et al.   PLOS BIOLOGY

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CFTR: folding, misfolding and correcting the ΔF508 conformational defect

(2011) Gergely L. Lukacs et al.   TRENDS IN MOLECULAR MEDICINE

Alternative pre-mRNA splicing in digestive tract malignancy

(2010) Koh Miura et al.   CANCER SCIENCE

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

Trans-Splicing-Mediated Improvement in a Severe Mouse Model of Spinal Muscular Atrophy

(2010) T. H. Coady et al.   JOURNAL OF NEUROSCIENCE

Exon Definition Complexes Contain the Tri-snRNP and Can Be Directly Converted into B-like Precatalytic Splicing Complexes

(2010) Marc Schneider et al.   MOLECULAR CELL

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

(2010) Hongqing Du et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

(2009) T. D. Baughan et al.   HUMAN MOLECULAR GENETICS

Stochastic noise in splicing machinery

(2009) Eugene Melamud et al.   NUCLEIC ACIDS RESEARCH

Splice-site pairing is an intrinsically high fidelity process

(2009) Kristi L. Fox-Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alternative splicing and disease

(2008) Jamal Tazi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Dynamic Regulation of Alternative Splicing by Silencers that Modulate 5′ Splice Site Competition

(2008) Yang Yu et al.   CELL

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

Splicing regulation: From a parts list of regulatory elements to an integrated splicing code

(2008) Z. Wang et al.   RNA