RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

De Novo Prediction of PTBP1 Binding and Splicing Targets Reveals Unexpected Features of Its RNA Recognition and Function

(2014) Areum Han et al.   PLoS Computational Biology

8.2% of the Human Genome Is Constrained: Variation in Rates of Turnover across Functional Element Classes in the Human Lineage

(2014) Chris M. Rands et al.   PLoS Genetics

Direct Conversion of Fibroblasts to Neurons by Reprogramming PTB-Regulated MicroRNA Circuits

(2013) Yuanchao Xue et al.   CELL

Widespread splicing changes in human brain development and aging

(2013) P. Mazin et al.   Molecular Systems Biology

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

(2013) Hong Han et al.   NATURE

A compendium of RNA-binding motifs for decoding gene regulation

(2013) Debashish Ray et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges

(2013) Michael T Lovci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds

(2013) Jie Wu et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Drift and conservation of differential exon usage across tissues in primate species

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

The evolution, impact and properties of exonic splice enhancers

(2013) Eva Cáceres et al.   GENOME BIOLOGY

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

(2012) L. T. Gehman et al.   GENES & DEVELOPMENT

Tissue-Specific Splicing of Disordered Segments that Embed Binding Motifs Rewires Protein Interaction Networks

(2012) Marija Buljan et al.   MOLECULAR CELL

Crystal structure of a voltage-gated sodium channel in two potentially inactivated states

(2012) Jian Payandeh et al.   NATURE

Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail

(2012) H. Dvir et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolutionary Dynamics of Gene and Isoform Regulation in Mammalian Tissues

(2012) J. Merkin et al.   SCIENCE

New connections between splicing and human disease

(2012) Richard A. Padgett   TRENDS IN GENETICS

Pre-mRNA splicing in disease and therapeutics

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

Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition

(2012) Maayan Amit et al.   Cell Reports

Intrinsically disordered proteins: regulation and disease

(2011) M Madan Babu et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Changes in exon-intron structure during vertebrate evolution affect the splicing pattern of exons

(2011) S. Gelfman et al.   GENOME RESEARCH

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

(2011) P. R. Pretorius et al.   HUMAN MOLECULAR GENETICS

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

Understanding splicing regulation through RNA splicing maps

(2011) Joshua T. Witten et al.   TRENDS IN GENETICS

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Alternative Splicing of the Histone Demethylase LSD1/KDM1 Contributes to the Modulation of Neurite Morphogenesis in the Mammalian Nervous System

(2010) C. Zibetti et al.   JOURNAL OF NEUROSCIENCE

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

Noisy Splicing Drives mRNA Isoform Diversity in Human Cells

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

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

(2010) Pamela R. Pretorius et al.   PLoS Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Patterns of exon-intron architecture variation of genes in eukaryotic genomes

(2009) Liucun Zhu et al.   BMC GENOMICS

Intrinsic Protein Disorder and Interaction Promiscuity Are Widely Associated with Dosage Sensitivity

(2009) Tanya Vavouri et al.   CELL

ESRP1 and ESRP2 Are Epithelial Cell-Type-Specific Regulators of FGFR2 Splicing

(2009) Claude C. Warzecha et al.   MOLECULAR CELL

Chromatin organization marks exon-intron structure

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

Structural implication of splicing stochastics

(2009) E. Melamud et al.   NUCLEIC ACIDS RESEARCH

Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2

(2008) C. Zhang et al.   GENES & DEVELOPMENT