Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep

ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genito-urinary Involvement

(2015) M Lee et al.   ACTA DERMATO-VENEREOLOGICA

DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle

(2015) Martin Peters et al.   BMC Veterinary Research

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

(2014) T. Takeichi et al.   BRITISH JOURNAL OF DERMATOLOGY

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Gene-based single nucleotide polymorphism discovery in bovine muscle using next-generation transcriptomic sequencing

(2013) Anis Djari et al.   BMC GENOMICS

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

(2013) H. Schumann et al.   BRITISH JOURNAL OF DERMATOLOGY

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

(2013) James A Poulter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of a 31-bp Deletion in the RELN Gene Causing Lissencephaly with Cerebellar Hypoplasia in Sheep

(2013) Aroa Suárez-Vega et al.   PLoS One

Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2

(2012) M. R. Shariflou et al.   ANIMAL GENETICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

A genome resource to address mechanisms of developmental programming: determination of the fetal sheep heart transcriptome

(2012) Laura A. Cox et al.   JOURNAL OF PHYSIOLOGY-LONDON

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

A novel hybrid gene prediction method employing protein multiple sequence alignments

(2011) Oliver Keller et al.   BIOINFORMATICS

Identification of novel transcripts in annotated genomes using RNA-Seq

(2011) A. Roberts et al.   BIOINFORMATICS

Inherited Junctional Epidermolysis Bullosa (Herlitz Type) in German Black-Headed Mutton Sheep

(2011) M. Ostmeier et al.   JOURNAL OF COMPARATIVE PATHOLOGY

Junctional epidermolysis bullosa in a calf

(2011) Gildenor X. Medeiros et al.   JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep

(2011) Stefanie Mömke et al.   PLoS One

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

SNP discovery in the bovine milk transcriptome using RNA-Seq technology

(2010) Angela Cánovas et al.   MAMMALIAN GENOME

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

(2008) Ramon Y. Birnbaum et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Partial deletion of theLAMA3gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse

(2008) K. T. Graves et al.   ANIMAL GENETICS

Using native and syntenically mapped cDNA alignments to improve de novo gene finding

(2008) Mario Stanke et al.   BIOINFORMATICS

Applications of next-generation sequencing technologies in functional genomics

(2008) Olena Morozova et al.   GENOMICS

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Mapping and quantifying mammalian transcriptomes by RNA-Seq

(2008) Ali Mortazavi et al.   NATURE METHODS

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS