Lista de obras -

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

scientific article published on 29 March 2019

A mutation in hairless dogs implicates FOXI3 in ectodermal development

artículo científico publicado en 2008

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII

artículo científico publicado en 2012

A novel KRT71 variant in curly-coated dogs

artículo científico publicado en 2018

A novel genomic region on chromosome 11 associated with fearfulness in dogs

artículo científico publicado en 2020

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

artículo científico publicado en 2020

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

artículo científico publicado en 2017

Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds.

artículo científico publicado en 2008

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

artículo científico publicado en 2018

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

artículo científico publicado en 2018

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

artículo científico publicado en 2021

Canine MPV17 truncation without clinical manifestations

artículo científico publicado en 2015

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

artículo científico publicado en 2019

Canine models of human rare disorders

artículo científico publicado en 2016

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

artículo científico publicado en 2015

Dog colour patterns explained by modular promoters of ancient canid origin

artículo científico publicado en 2021

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

artículo científico publicado en 2017

Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes

artículo científico publicado en 2013

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

artículo científico publicado en 2017

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

artículo científico publicado en 2016

MKLN1 splicing defect in dogs with lethal acrodermatitis.

artículo científico publicado en 2018

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.

artículo científico publicado en 2018

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

artículo científico publicado en 2016

Myotonia congenita in a Labrador Retriever with truncated CLCN1

artículo científico publicado en 2018

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

artículo científico publicado en 2017

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

artículo científico publicado en 2019

Novel protective and risk loci in hip dysplasia in German Shepherds

scientific article published on 19 July 2019

Out of southern East Asia: the natural history of domestic dogs across the world

artículo científico publicado en 2016

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

artículo científico publicado en 2020

Toxoplasma gondii seroprevalence varies by cat breed

artículo científico publicado en 2017

Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies

artículo científico publicado en 2012

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

artículo científico publicado en 2020

Lista de obras de

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

A mutation in hairless dogs implicates FOXI3 in ectodermal development

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII

A novel KRT71 variant in curly-coated dogs

A novel genomic region on chromosome 11 associated with fearfulness in dogs

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds.

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

Canine MPV17 truncation without clinical manifestations

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Canine models of human rare disorders

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Dog colour patterns explained by modular promoters of ancient canid origin

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

MKLN1 splicing defect in dogs with lethal acrodermatitis.

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

Myotonia congenita in a Labrador Retriever with truncated CLCN1

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

Novel protective and risk loci in hip dysplasia in German Shepherds

Out of southern East Asia: the natural history of domestic dogs across the world

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

Toxoplasma gondii seroprevalence varies by cat breed

Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs