Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene

Genotype imputation in the domestic dog

(2016) S. G. Friedenberg et al.   MAMMALIAN GENOME

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Genetics of Peripheral Vestibular Dysfunction: Lessons from Mutant Mouse Strains

(2014) Sherri M. Jones et al.   Journal of the American Academy of Audiology

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

(2012) Pablo Cingolani et al.   FLY

A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher

(2012) Kathryn M. Meurs et al.   HUMAN GENETICS

Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ

(2012) R. J. Goodyear et al.   JOURNAL OF NEUROSCIENCE

Canine Deafness

(2012) George M. Strain   VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransduction

(2011) Anthony W. Peng et al.   Nature Communications

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

(2010) Margit Schraders 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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH