Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

Further defining the phenotypic spectrum ofB4GALT7mutations

(2016) Claire G. Salter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

(2015) Kelly L. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses

(2015) Bart J. Ducro et al.   BMC GENOMICS

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

(2015) A. Lossos et al.   NEUROLOGY

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

(2014) François Cartault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare

(2012) Ryan Doan et al.   BMC GENOMICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A Contracted DNA Repeat in LHX3 Intron 5 Is Associated with Aberrant Splicing and Pituitary Dwarfism in German Shepherd Dogs

(2011) Annemarie M. W. Y. Voorbij et al.   PLoS One

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

(2010) N. Orr et al.   ANIMAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Normal function of the hypothalamic-pituitary growth axis in three dwarf Friesian foals

(2010) E. de Graaf-Roelfsema et al.   VETERINARY RECORD

Fast and accurate short read alignment with Burrows-Wheeler transform

(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

Phenotypic diagnosis of dwarfism in six Friesian horses

(2008) W. BACK et al.   EQUINE VETERINARY JOURNAL