SERPINB11 Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

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

A new tool for conditional gene manipulation in a subset of keratin-expressing epithelia

(2012) Yinqiu Wang et al.   GENESIS

ENCODE: The human encyclopaedia

(2012) Brendan Maher   NATURE

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1

(2011) Maija Kiuru et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

(2011) Anne-Sophie Fröjmark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Next-generation human genetics

(2011) Jay Shendure   GENOME BIOLOGY

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Novel keratins identified by quantitative proteomic analysis as the major cytoskeletal proteins of equine (Equus caballus) hoof lamellar tissue1

(2010) R. A. Carter et al.   JOURNAL OF ANIMAL SCIENCE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Determination of internal control for gene expression studies in equine tissues and cell culture using quantitative RT-PCR

(2009) Yuwen W. Zhang et al.   VETERINARY IMMUNOLOGY AND IMMUNOPATHOLOGY

Comparative analysis of c-kit gene expression and c-Kit immunoreactivity in horses with and without obstructive intestinal disease

(2009) Constanze Fintl et al.   VETERINARY JOURNAL

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

(2009) Cord Drögemüller et al.   PLoS Genetics