Deep intronic mutations and human disease

Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs

(2017) Margarita Schlackow et al.   MOLECULAR CELL

CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10

(2017) Guo-Xiang Ruan et al.   MOLECULAR THERAPY

An IntronicFlk1Enhancer Directs Arterial-Specific Expression via RBPJ-Mediated Venous RepressionHighlights

(2016) Philipp W. Becker et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins

(2016) Yun-Hua Esther Hsiao et al.   GENOME RESEARCH

A Novel Regulatory Mechanism of Type II Collagen Expression via a SOX9-dependent Enhancer in Intron 6

(2016) Hideyo Yasuda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

(2016) Letizia Straniero et al.   JOURNAL OF HUMAN GENETICS

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

(2016) Bruno Palhais et al.   MOLECULAR GENETICS AND METABOLISM

Lessons from non-canonical splicing

(2016) Christopher R. Sibley et al.   NATURE REVIEWS GENETICS

The biogenesis and emerging roles of circular RNAs

(2016) Ling-Ling Chen   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Targeted Intron Retention and Excision for Rapid Gene Regulation in Response to Neuronal Activity

(2016) Oriane Mauger et al.   NEURON

Discovery of RNA splicing and genes in pieces

(2016) Arnold J. Berk   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased complexity of circRNA expression during species evolution

(2016) Rui Dong et al.   RNA Biology

The Spliceosome: The Ultimate RNA Chaperone and Sculptor

(2016) Panagiotis Papasaikas et al.   TRENDS IN BIOCHEMICAL SCIENCES

Circular RNA Expression: Its Potential Regulation and Function

(2016) Julia Salzman   TRENDS IN GENETICS

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

(2016) Johanna Känsäkoski et al.   Scientific Reports

mRNAtrans -splicing in gene therapy for genetic diseases

(2016) Adeline Berger et al.   Wiley Interdisciplinary Reviews-RNA

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene

(2016) Karin Cunha et al.   Genes

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

(2016) Lorenzo Ferri et al.   Molecular Therapy-Nucleic Acids

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

(2016) Tobias Bonifert et al.   Molecular Therapy-Nucleic Acids

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

(2016) Atze J Bergsma et al.   Molecular Therapy-Nucleic Acids

Regulation of Alternative Splicing Through Coupling with Transcription and Chromatin Structure

(2015) Shiran Naftelberg et al.   Annual Review of Biochemistry

Forward engineering neuronal diversity using direct reprogramming

(2015) R. K. Tsunemoto et al.   EMBO JOURNAL

Detained introns are a novel, widespread class of post-transcriptionally spliced introns

(2015) Paul L. Boutz et al.   GENES & DEVELOPMENT

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

(2015) Alessandro Liquori et al.   HUMAN MUTATION

Mammalian Introns: When the Junk Generates Molecular Diversity

(2015) Florent Hubé et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

(2015) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases

(2015) Nadja Chmel et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Recursive splicing in long vertebrate genes

(2015) Christopher R. Sibley et al.   NATURE

Genome-wide identification of zero nucleotide recursive splicing in Drosophila

(2015) Michael O. Duff et al.   NATURE

The noncoding RNAs SNORD50A and SNORD50B bind K-Ras and are recurrently deleted in human cancer

(2015) Zurab Siprashvili et al.   NATURE GENETICS

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

Splicing of many human genes involves sites embedded within introns

(2015) Steven Kelly et al.   NUCLEIC ACIDS RESEARCH

Non-sequential and multi-step splicing of the dystrophin transcript

(2015) Isabella Gazzoli et al.   RNA Biology

Structural basis of pre-mRNA splicing

(2015) Jing Hang et al.   SCIENCE

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

(2015) Daniele Merico et al.   Nature Communications

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

(2015) Takuya Naruto et al.   Scientific Reports

Deep IntronicGBE1Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease

(2015) H. Orhan Akman et al.   JAMA Neurology

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

(2015) Kane Greer et al.   Molecular Genetics & Genomic Medicine

Conservation in first introns is positively associated with the number of exons within genes and the presence of regulatory epigenetic signals

(2014) Seung Park et al.   BMC GENOMICS

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

(2014) T. Bonifert et al.   BRAIN

Intronic splicing mutations in PTCH1 cause Gorlin syndrome

(2014) Zaynab Bholah et al.   Familial Cancer

Short intronic repeat sequences facilitate circular RNA production

(2014) Dongming Liang et al.   GENES & DEVELOPMENT

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

(2014) Elisabeth Gillis et al.   HUMAN MUTATION

An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

(2014) Miriam Bauwens et al.   HUMAN MUTATION

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

(2014) Nathalie M. Bax et al.   HUMAN MUTATION

In Brief: (Mis)splicing in disease

(2014) Simona Pedrotti et al.   JOURNAL OF PATHOLOGY

Three cases of Wolfram syndrome with different clinical aspects

(2014) Emine Çamtosun et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

When a mid-intronic variation of DMD gene creates an ESE site

(2014) Madiha Trabelsi et al.   NEUROMUSCULAR DISORDERS

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

(2014) F. Jafarifar et al.   RNA

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

Origin of Spliceosomal Introns and Alternative Splicing

(2014) M. Irimia et al.   Cold Spring Harbor Perspectives in Biology

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

(2014) Timothy Sterne-Weiler et al.   GENOME BIOLOGY

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

(2014) Janice A. Dominov et al.   Annals of Clinical and Translational Neurology

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

(2013) Lucy Costantino et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Orchestrated Intron Retention Regulates Normal Granulocyte Differentiation

(2013) Justin J.-L. Wong et al.   CELL

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

(2013) Saiqa Yasmeen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

(2013) M.J.E. Walenkamp et al.   Hormone Research in Paediatrics

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

(2013) Terry A. Braun et al.   HUMAN MOLECULAR GENETICS

In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

(2013) Lorea Blázquez et al.   HUMAN MUTATION

Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

(2013) Przemyslaw Szafranski et al.   HUMAN MUTATION

Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation inF8cDNA

(2013) B. Pezeshkpoor et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Circular Intronic Long Noncoding RNAs

(2013) Yang Zhang et al.   MOLECULAR CELL

Computational identification of functional introns: high positional conservation of introns that harbor RNA genes

(2013) Michal Chorev et al.   NUCLEIC ACIDS RESEARCH

Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

(2012) Sarah E. Flanagan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy

(2012) O. Anczukow et al.   CLINICAL CANCER RESEARCH

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

(2012) Elisabeth Castellanos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin–Lowry syndrome

(2012) Anne Schneider et al.   European Journal of Medical Genetics

Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides

(2012) X. Roca et al.   GENES & DEVELOPMENT

Coordinated regulation of neuronal mRNA steady-state levels through developmentally controlled intron retention

(2012) K. Yap et al.   GENES & DEVELOPMENT

Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A

(2012) H. Inaba et al.   HAEMOPHILIA

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Deep intronicAPCmutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

(2012) Isabel Spier et al.   HUMAN MUTATION

Extensive Degradation of RNA Precursors by the Exosome in Wild-Type Cells

(2012) Rajani Kanth Gudipati et al.   MOLECULAR CELL

Induced pluripotent stem cells: the new patient?

(2012) Milena Bellin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

(2012) Cecilia Mancini et al.   NEUROGENETICS

Circular RNAs are abundant, conserved, and associated with ALU repeats

(2012) W. R. Jeck et al.   RNA

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

First Exon Length Controls Active Chromatin Signatures and Transcription

(2012) Nicole I. Bieberstein et al.   Cell Reports

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

(2011) Allan J Richards et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation deep within an intron of MSH2 causes Lynch syndrome

(2011) Mark Clendenning et al.   Familial Cancer

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

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

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

(2011) Mouna Messaoud Khelifi et al.   HUMAN MUTATION

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

(2011) Catherine Costa et al.   Journal of Cystic Fibrosis

Deep intronic variations may cause mild hemophilia A

(2011) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Biogenic mechanisms and utilization of small RNAs derived from human protein-coding genes

(2011) Eivind Valen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation

(2011) A. Corrigan et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Understanding splicing regulation through RNA splicing maps

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

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

(2010) Matteo Bovolenta et al.   BMC Medical Genetics

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

(2010) J Albuisson et al.   CLINICAL GENETICS

Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome

(2010) Y.-F. Lo et al.   Clinical Journal of the American Society of Nephrology

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies

(2010) Ashish Dhir et al.   FEBS Journal

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

(2010) Katrin Friedrich et al.   HUMAN GENETICS

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

(2010) André B. P. van Kuilenburg et al.   HUMAN GENETICS

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

(2010) Katerina Homolova et al.   HUMAN MUTATION

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Distinct Patterns of Expression and Evolution of Intronless and Intron-Containing Mammalian Genes

(2010) Svetlana A. Shabalina et al.   MOLECULAR BIOLOGY AND EVOLUTION

MicroRNA Biogenesis via Splicing and Exosome-Mediated Trimming in Drosophila

(2010) Alex S. Flynt et al.   MOLECULAR CELL

U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation

(2010) Daisuke Kaida et al.   NATURE

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

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4

(2010) Berivan Baskin et al.   NEUROMUSCULAR DISORDERS

A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo

(2010) Anthony Antonellis et al.   PLoS One

Spliceosome Structure and Function

(2010) C. L. Will et al.   Cold Spring Harbor Perspectives in Biology

Noisy Splicing Drives mRNA Isoform Diversity in Human Cells

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

A Mutation that Creates a Pseudoexon inSOD1Causes Familial ALS

(2009) Paul N. Valdmanis et al.   ANNALS OF HUMAN GENETICS

Recurrence of the ‘deep-intronic’ FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto

(2009) Manuela Platè et al.   BLOOD COAGULATION & FIBRINOLYSIS

Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy

(2009) Gittan Kollberg et al.   BRAIN

SLC45A3-ELK4 Is a Novel and Frequent Erythroblast Transformation-Specific Fusion Transcript in Prostate Cancer

(2009) D. S. Rickman et al.   CANCER RESEARCH

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Pseudoexon activation in thePKHD1gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

(2009)   CLINICAL GENETICS

Transposable elements in disease-associated cryptic exons

(2009) Igor Vorechovsky   HUMAN GENETICS

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

(2009) Ana I. Vega et al.   HUMAN MUTATION

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

(2009) Thomas Rio Frio et al.   HUMAN MUTATION

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

(2009) Valeria Faà et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Implication of snoRNA U50 in human breast cancer

(2009) Xue-Yuan Dong et al.   Journal of Genetics and Genomics

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome

(2009) Kandai Nozu et al.   PEDIATRIC RESEARCH

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

(2008) Fanny Mochel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intron Retention Generates a Novel Isoform of CEACAM6 That May Act as an Adhesion Molecule in the Ectoplasmic Specialization Structures Between Spermatids and Sertoli Cells in Rat Testis1

(2008) Hitoshi Kurio et al.   BIOLOGY OF REPRODUCTION

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

(2008) Matteo Bovolenta et al.   BMC GENOMICS

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

(2008) Yang Yu et al.   CELL

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

(2008) Nele Hilgert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition

(2008) M. Beltran et al.   GENES & DEVELOPMENT

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

(2008) A. Olsson et al.   HUMAN MOLECULAR GENETICS

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

(2008) Dominic Furniss et al.   HUMAN MOLECULAR GENETICS

A deep intronic mutation inFGBcreates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment

(2008) Ryan L. Davis et al.   HUMAN MUTATION

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

(2008) Heidi R. Madden et al.   HUMAN MUTATION

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

(2008) Dong-chuan Guo et al.   JOURNAL OF HUMAN GENETICS

A 5′ Splice Site Enhances the Recruitment of Basal Transcription Initiation Factors In Vivo

(2008) Christian Kroun Damgaard et al.   MOLECULAR CELL

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency

(2008) Jamiyan Purevsuren et al.   MOLECULAR GENETICS AND METABOLISM

Translational control of intron splicing in eukaryotes

(2008) Olivier Jaillon et al.   NATURE

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

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

(2008) Z. Wang et al.   RNA

A Neoplastic Gene Fusion Mimics Trans-Splicing of RNAs in Normal Human Cells

(2008) H. Li et al.   SCIENCE

Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits

(2008) Erin L Heinzen et al.   PLOS BIOLOGY

Exon creation and establishment in human genes

(2008) André Corvelo et al.   GENOME BIOLOGY

Intron mis-splicing: no alternative?

(2008) Scott Roy et al.   GENOME BIOLOGY

DMDpseudoexon mutations: splicing efficiency, phenotype, and potential therapy

(2007) Olga L. Gurvich et al.   ANNALS OF NEUROLOGY