In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

(2014) Simone Jung et al.   BMC GENOMICS

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

(2014) Lina Basel-Vanagaite et al.   HUMAN GENETICS

Genomic evaluation, breed identification, and discovery of a haplotype affecting fertility for Ayrshire dairy cattle

(2014) T.A. Cooper et al.   JOURNAL OF DAIRY SCIENCE

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

(2014) Hans D Daetwyler et al.   NATURE GENETICS

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

(2013) Sandra Jansen et al.   BMC GENOMICS

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

(2012) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

(2012) Folkert W. Asselbergs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Splice Site Variant in the Bovine RNF11 Gene Compromises Growth and Regulation of the Inflammatory Response

(2012) Arnaud Sartelet et al.   PLoS Genetics

Genome Assembly Has a Major Impact on Gene Content: A Comparison of Annotation in Two Bos Taurus Assemblies

(2011) Liliana Florea et al.   PLoS One

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

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Malformation syndromes caused by disorders of cholesterol synthesis

(2010) Forbes D. Porter et al.   JOURNAL OF LIPID RESEARCH

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

A Novel Mutation in the Maternally Imprinted PEG3 Domain Results in a Loss of MIMT1 Expression and Causes Abortions and Stillbirths in Cattle (Bos taurus)

(2010) Krzysztof Flisikowski et al.   PLoS One

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

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

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

(2009) Aleksey V Zimin et al.   GENOME BIOLOGY