Cerebellar Abiotrophy in Australian Working Kelpies Is Associated with Two Major Risk Loci

Inbreeding levels in an open-registry pedigreed dog breed: The Australian working kelpie

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A novel canine reference genome resolves genomic architecture and uncovers transcript complexity

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Genomic Characterization of External Morphology Traits in Kelpies Does Not Support Common Ancestry with the Australian Dingo

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Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology

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A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

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Differential Methylation of H3K79 Reveals DOT1L Target Genes and Function in the Cerebellum In Vivo

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UCSC Data Integrator and Variant Annotation Integrator

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Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

(2016) Yubin Wang et al.   Cell Reports

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

(2016) Nico Mauri et al.   G3-Genes Genomes Genetics

Inferior Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation in Purebred Eurasier Dogs with Familial Non-Progressive Ataxia: A Retrospective and Prospective Clinical Cohort Study

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A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

(2015) Kaisa Kyöstilä et al.   PLoS Genetics

A HomozygousKCNJ10Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

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Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1

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Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

(2014) Caryline Agler et al.   PLoS Genetics

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed

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The VMP1-Beclin 1 interaction regulates autophagy induction

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Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

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Exercise-induced BCL2-regulated autophagy is required for muscle glucose homeostasis

(2012) Congcong He et al.   NATURE

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

(2012) Kaisa Kyöstilä et al.   PLoS Genetics

Mapping cerebellar abiotrophy in Australian Kelpies

(2011) J. R. Shearman et al.   ANIMAL GENETICS

A Truncated Retrotransposon Disrupts the GRM1 Coding Sequence in Coton de Tulear Dogs with Bandera's Neonatal Ataxia

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

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

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

(2010) A. McKenna et al.   GENOME RESEARCH

Hereditary Cerebellar Degeneration in Scottish Terriers

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The Sequence Alignment/Map format and SAMtools

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Fast and accurate short read alignment with Burrows-Wheeler transform

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