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Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs

Proceedings of the National Academy of Sciences - PNAS, 2016-01, Vol.113 (1), p.152-157

2016

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International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification

Journal of veterinary internal medicine, 2021-05, Vol.35 (3), p.1218-1230

2021

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Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

G3 : genes - genomes - genetics, 2020-08, Vol.10 (8), p.2741-2751

2020

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A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs

Molecular genetics and metabolism, 2019-05, Vol.127 (1), p.107-115

2019

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Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome

Genes, 2022-11, Vol.13 (11), p.2158

2022

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A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

Neurobiology of disease, 2011-06, Vol.42 (3), p.468-474

2011

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An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

G3 : genes - genomes - genetics, 2016-09, Vol.6 (9), p.2687-2692

2016

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A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia

Neurogenetics, 2017-01, Vol.18 (1), p.39-47

2017

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A mutation in the Warburg syndrome gene, RAB3GAP1 , causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

Neurobiology of disease, 2016-02, Vol.86, p.75-85

2016

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A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

Molecular genetics and metabolism, 2010-08, Vol.100 (4), p.349-356

2010

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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

PLoS genetics, 2014-02, Vol.10 (2), p.e1003991-e1003991

2014

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A novel mutation in CLCN1 associated with feline myotonia congenita

PloS one, 2014-10, Vol.9 (10), p.e109926-e109926

2014

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A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

Acta veterinaria scandinavica, 2015-05, Vol.57 (1), p.26-26, Article 26

2015

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A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

BMC veterinary research, 2015-01, Vol.10 (1), p.960-960, Article 960

2015

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A mutation in the cathepsin D gene ( CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

Molecular genetics and metabolism, 2006-04, Vol.87 (4), p.341-348

2006

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A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

Molecular genetics and metabolism, 2006-11, Vol.89 (3), p.254-260

2006

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Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Investigative ophthalmology & visual science, 2008-06, Vol.49 (6), p.2686-2695

2008

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Understanding genetics: why should vets care?

Journal of feline medicine and surgery, 2015-03, Vol.17 (3), p.201-202

2015

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An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures

PloS one, 2010-09, Vol.5 (9), p.e12817

2010

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A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

BMC veterinary research, 2012-07, Vol.8 (1), p.124-124

2012

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Clinical description and mode of inheritance of idiopathic epilepsy in English springer spaniels

Journal of the American Veterinary Medical Association, 2005-01, Vol.226 (1), p.54-58

2005

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A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

Molecular genetics and metabolism, 2014-08, Vol.112 (4), p.302-309

2014

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A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis

BioMed research international, 2011-01, Vol.2011 (1), p.198042

2011

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Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 ( SOD1 ) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers

Journal of the neurological sciences, 2012-07, Vol.318 (1), p.55-64

2012

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Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

Proceedings of the National Academy of Sciences - PNAS, 2009-02, Vol.106 (8), p.2794-2799

2009

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Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs

International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia

A mutation in the Warburg syndrome gene, RAB3GAP1 , causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24

A novel mutation in CLCN1 associated with feline myotonia congenita

A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

A mutation in the cathepsin D gene ( CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Understanding genetics: why should vets care?

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures

A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

Clinical description and mode of inheritance of idiopathic epilepsy in English springer spaniels

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis

Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 ( SOD1 ) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers

Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

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