Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle

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

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

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

(2013) A. Sartelet et al.   Disease Models & Mechanisms

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Ancestral haplotype-based association mapping with generalized linear mixed models accounting for stratification

(2012) Z. Zhang et al.   BIOINFORMATICS

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Inherited glycosylphosphatidyl inositol deficiency: A treatable CDG

(2009) Antonio Almeida et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

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

(2008) Carole Charlier et al.   NATURE GENETICS