Genomics of alternative splicing: evolution, development and pathophysiology

Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy

(2013) Taeyoung Koo et al.   HUMAN GENE THERAPY

Splicing factor TRA2B is required for neural progenitor survival

(2013) Jacqueline M. Roberts et al.   JOURNAL OF COMPARATIVE NEUROLOGY

The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing

(2013) G Barry et al.   MOLECULAR PSYCHIATRY

MBNL proteins repress ES-cell-specific alternative splicing and reprogramming

(2013) Hong Han et al.   NATURE

Regulation by alternative splicing

(2013) Yair Aaronson et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex

(2013) Allissa A Dillman et al.   NATURE NEUROSCIENCE

Count-based differential expression analysis of RNA sequencing data using R and Bioconductor

(2013) Simon Anders et al.   Nature Protocols

Differential splicing across immune system lineages

(2013) A. Ergun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of Telomerase Alternative Splicing: A Target for Chemotherapy

(2013) Mandy S. Wong et al.   Cell Reports

RNA-SeQC: RNA-seq metrics for quality control and process optimization

(2012) David S. DeLuca et al.   BIOINFORMATICS

Detection of Redundant Fusion Transcripts as Biomarkers or Disease-Specific Therapeutic Targets in Breast Cancer

(2012) Y. W. Asmann et al.   CANCER RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules

(2012) Yang Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Alternative splicing networks regulated by signaling in human T cells

(2012) N. M. Martinez et al.   RNA

Splicing in 4D

(2012) P. Papasaikas et al.   SCIENCE

Evolutionary Dynamics of Gene and Isoform Regulation in Mammalian Tissues

(2012) J. Merkin et al.   SCIENCE

The Evolutionary Landscape of Alternative Splicing in Vertebrate Species

(2012) N. L. Barbosa-Morais et al.   SCIENCE

Reversible RNA adenosine methylation in biological regulation

(2012) Guifang Jia et al.   TRENDS IN GENETICS

The importance of identifying alternative splicing in vertebrate genome annotation

(2012) Adam Frankish et al.   Database-The Journal of Biological Databases and Curation

Variants Affecting Exon Skipping Contribute to Complex Traits

(2012) Younghee Lee et al.   PLoS Genetics

htSeqTools: high-throughput sequencing quality control, processing and visualization in R

(2011) Evarist Planet et al.   BIOINFORMATICS

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

(2011) C. Vandiedonck et al.   GENOME RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

(2011)   PLOS BIOLOGY

Transcriptome genetics using second generation sequencing in a Caucasian population

(2010) Stephen B. Montgomery et al.   NATURE

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

Noisy Splicing Drives mRNA Isoform Diversity in Human Cells

(2010) Joseph K. Pickrell et al.   PLoS Genetics

Less is more: therapeutic exon skipping for Duchenne muscular dystrophy

(2009) Annemieke Aartsma-Rus et al.   LANCET NEUROLOGY

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

(2009) Maria Kinali et al.   LANCET NEUROLOGY

RNA processing and its regulation: global insights into biological networks

(2009) Donny D. Licatalosi et al.   NATURE REVIEWS GENETICS

Nucleosome positioning as a determinant of exon recognition

(2009) Hagen Tilgner et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Chromatin organization marks exon-intron structure

(2009) Schraga Schwartz et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines

(2009) Shiwei Duan et al.   PHARMACOGENOMICS

DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms

(2009) K. Nakata et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fine-Scale Variation and Genetic Determinants of Alternative Splicing across Individuals

(2009) Jasmin Coulombe-Huntington et al.   PLoS Genetics

Alternative Polyadenylation: A Twist on mRNA 3′ End Formation

(2008) Carol S. Lutz   ACS Chemical Biology

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Genome-wide analysis of transcript isoform variation in humans

(2008) Tony Kwan et al.   NATURE GENETICS

Stem cell transcriptome profiling via massive-scale mRNA sequencing

(2008) Nicole Cloonan et al.   NATURE METHODS

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Z. Wang et al.   RNA

The functional consequences of alternative promoter use in mammalian genomes

(2008) Ramana V. Davuluri et al.   TRENDS IN GENETICS