Lista de obras -

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

artículo científico publicado en 2017

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome

artículo científico publicado en 2020

A Missense Mutation in the Vacuolar Protein Sorting 11 () Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs

article

A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE)

artículo científico publicado en 2020

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

artículo científico publicado en 2020

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia

artículo científico publicado en 2019

A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern

scientific article published on 11 July 2019

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta

artículo científico publicado en 2019

A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits

scientific article published on 15 November 2019

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

artículo científico publicado en 2021

A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep

artículo científico publicado en 2020

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

artículo científico publicado en 2020

Canine NAPEPLD-associated models of human myelin disorders.

artículo científico publicado en 2018

Chromosomal imbalance in pigs showing a syndromic form of cleft palate

scientific article published on 08 May 2019

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

artículo científico publicado en 2020

De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull

scientific article published on 02 April 2020

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep

artículo científico publicado en 2020

Dog colour patterns explained by modular promoters of ancient canid origin

artículo científico publicado en 2021

Ear type in sheep is associated with the MSRB3 locus

scientific article published on 17 August 2020

Genomic diversity and population structure of the Leonberger dog breed

artículo científico publicado en 2020

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

scientific article published on 21 May 2019

Identification of two TYRP1 loss-of-function alleles in Valais Red sheep

artículo científico publicado en 2019

Multiple FGF4 Retrocopies Recently Derived within Canids

artículo científico publicado en 2020

New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing

scientific article published on 14 February 2020

SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy

artículo científico publicado en 2020

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

artículo científico publicado en 2018

Two brown coat colour-associated TYRP1 variants (bc and bd ) occur in Leonberger dogs.

artículo científico publicado en 2017

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

artículo científico publicado en 2020

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene

scientific article published on 08 October 2020

Lista de obras de

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome

A Missense Mutation in the Vacuolar Protein Sorting 11 () Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs

A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE)

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia

A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta

A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Canine NAPEPLD-associated models of human myelin disorders.

Chromosomal imbalance in pigs showing a syndromic form of cleft palate

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep

Dog colour patterns explained by modular promoters of ancient canid origin

Ear type in sheep is associated with the MSRB3 locus

Genomic diversity and population structure of the Leonberger dog breed

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

Identification of two TYRP1 loss-of-function alleles in Valais Red sheep

Multiple FGF4 Retrocopies Recently Derived within Canids

New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing

SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

Two brown coat colour-associated TYRP1 variants (bc and bd ) occur in Leonberger dogs.

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene