Lista de obras -

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy

artículo científico publicado en 2013

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

artículo científico publicado en 2019

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 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

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

artículo científico publicado en 2018

Association study reveals novel risk loci for sporadic inclusion body myositis.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Copy number variation analysis increases the diagnostic yield in muscle diseases

scientific article published on 11 December 2017

Dog colour patterns explained by modular promoters of ancient canid origin

artículo científico publicado en 2021

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

artículo científico publicado en 2021

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

artículo científico publicado en 2017

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

artículo científico publicado en 2015

Increased expression of MERTK is associated with a unique form of canine retinopathy

artículo científico publicado en 2014

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

scientific article published in 2021

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Novel protective and risk loci in hip dysplasia in German Shepherds

scientific article published on 19 July 2019

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

artículo científico publicado en 2020

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

artículo científico publicado en 2015

Lista de obras de

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

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 putative silencer variant in a spontaneous canine model of retinitis pigmentosa

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

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

Association study reveals novel risk loci for sporadic inclusion body myositis.

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

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

Copy number variation analysis increases the diagnostic yield in muscle diseases

Dog colour patterns explained by modular promoters of ancient canid origin

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

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

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

Increased expression of MERTK is associated with a unique form of canine retinopathy

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

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

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

Novel protective and risk loci in hip dysplasia in German Shepherds

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

Targeted next-generation sequencing assay for detection of mutations in primary myopathies