A Mutation in the FAM83G Gene in Dogs with Hereditary Footpad Hyperkeratosis (HFH)

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

(2013) Diana C. Blaydon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation

(2013) Vidhya Jagannathan et al.   PLoS Genetics

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

(2012) Pablo Cingolani et al.   FLY

Keratin 16–Null Mice Develop Palmoplantar Keratoderma, a Hallmark Feature of Pachyonychia Congenita and Related Disorders

(2012) Juliane C. Lessard et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed

(2012) Oliver P. Forman et al.   PLoS Genetics

Keratin disorders: from gene to therapy

(2011) W. H. I. McLean et al.   HUMAN MOLECULAR GENETICS

A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

(2011) Mia Olsson et al.   PLoS Genetics

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

(2010) Bruno Zeitouni et al.   BIOINFORMATICS

Missing C-terminal filaggrin expression, NFkappaB activation and hyperproliferation identify the dog as a putative model to study epidermal dysfunction in atopic dermatitis

(2010) Ludovic Chervet et al.   EXPERIMENTAL DERMATOLOGY

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

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

Coat Variation in the Domestic Dog Is Governed by Variants in Three Genes

(2009) E. Cadieu et al.   SCIENCE

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

(2008) Jung-Wook Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leader of the pack: gene mapping in dogs and other model organisms

(2008) Elinor K. Karlsson et al.   NATURE REVIEWS GENETICS

A Mutation in Hairless Dogs Implicates FOXI3 in Ectodermal Development

(2008) Cord Drögemüller et al.   SCIENCE