A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

(2016) Hermann Schwarzenbacher et al.   BMC GENOMICS

Validation of Deleterious Mutations in Vorderwald Cattle

(2016) Sina Reinartz et al.   PLoS One

A stop-gain in thelaminin, alpha 3gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle

(2015) Arnaud Sartelet et al.   ANIMAL GENETICS

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

(2015) Hubert Pausch et al.   BMC GENOMICS

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

Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene

(2015) Leonardo Murgiano et al.   BMC Veterinary Research

Short communication: Validation of 4 candidate causative trait variants in 2 cattle breeds using targeted sequence imputation

(2015) Hubert Pausch et al.   JOURNAL OF DAIRY SCIENCE

Short communication: Importance of introgression for milk traits in the German Vorderwald and Hinterwald cattle

(2015) S. Hartwig et al.   JOURNAL OF DAIRY SCIENCE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

fastSTRUCTURE: Variational Inference of Population Structure in Large SNP Data Sets

(2014) Anil Raj et al.   GENETICS

The kinship2 R Package for Pedigree Data

(2014) Jason P. Sinnwell et al.   HUMAN HEREDITY

The contribution of migrant breeds to the genetic gain of beef traits of German Vorderwald and Hinterwald cattle

(2014) S. Hartwig et al.   JOURNAL OF ANIMAL BREEDING AND GENETICS

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle

(2014) Hans D Daetwyler et al.   NATURE GENETICS

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

Epidermolysis bullosa in animals: a review

(2014) Gildenor X. Medeiros et al.   VETERINARY DERMATOLOGY

A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle

(2014) Hubert Pausch et al.   PLoS Genetics

A 660-Kb Deletion with Antagonistic Effects on Fertility and Milk Production Segregates at High Frequency in Nordic Red Cattle: Additional Evidence for the Common Occurrence of Balancing Selection in Livestock

(2014) Naveen Kumar Kadri et al.   PLoS Genetics

Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012

(2013) Frank W. Nicholas et al.   ANIMAL GENETICS

Fine Mapping for Weaver Syndrome in Brown Swiss Cattle and the Identification of 41 Concordant Mutations across NRCAM, PNPLA8 and CTTNBP2

(2013) Matthew McClure et al.   PLoS One

Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

(2013) Alexander Nyström et al.   PLoS One

Across breed multi-trait random regression genomic predictions in the Nordic Red dairy cattle

(2012) M.L. Makgahlela et al.   JOURNAL OF ANIMAL BREEDING AND GENETICS

A consensus approach to wound care in epidermolysis bullosa

(2012) Elena Pope et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Höhenvieh Cattle

(2012) Annie Menoud et al.   PLoS One

Molecular characterization of a long range haplotype affecting protein yield and mastitis susceptibility in Norwegian Red cattle

(2011) Marte Sodeland et al.   BMC GENETICS

Harmful recessive effects on fertility detected by absence of homozygous haplotypes

(2011) P.M. VanRaden et al.   JOURNAL OF DAIRY SCIENCE

Correction of Dog Dystrophic Epidermolysis Bullosa by Transplantation of Genetically Modified Epidermal Autografts

(2011) Yannick Gache et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle

(2011) Cord Drögemüller et al.   PLoS One

Right-sided cleft lip and jaw in a family of Vorderwald×Montbéliarde cattle

(2011) Bettina Lupp et al.   VETERINARY JOURNAL

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A whole-genome assembly of the domestic cow, Bos taurus

(2009) Aleksey V Zimin et al.   GENOME BIOLOGY

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

(2008) Ningning Dang et al.   EXPERIMENTAL DERMATOLOGY

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

Highly effective SNP-based association mapping and management of recessive defects in livestock

(2008) Carole Charlier et al.   NATURE GENETICS