Lista de obras -

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery

artículo científico publicado en 2012

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

artículo científico publicado en 2015

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

artículo científico publicado en 2013

A novel form of progressive retinal atrophy in Swedish vallhund dogs

artículo científico publicado en 2014

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

artículo científico publicado en 2011

ADAM23 is a common risk gene for canine idiopathic epilepsy

artículo científico publicado en 2017

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

artículo científico publicado en 2021

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

artículo científico publicado en 2017

Genome wide association study of 40 clinical measurements in eight dog breeds

scientific article published on 16 April 2020

Germ-line alterations in MSR1 gene and prostate cancer risk

artículo científico publicado en 2003

Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer

artículo científico publicado en 2002

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

artículo científico publicado en 2012

Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Interbreed variation of biomarkers of lipid and glucose metabolism in dogs

artículo científico publicado en 2018

KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland

artículo científico publicado en 2006

LGI2 truncation causes a remitting focal epilepsy in dogs

artículo científico publicado en 2011

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

artículo científico publicado en 2015

New paraoxonase 1 polymorphism I102V and the risk of prostate cancer in Finnish men.

artículo científico publicado en 2003

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

artículo científico publicado en 2021

Phenotype, inheritance characteristics, and risk factors for idiopathic epilepsy in Finnish Spitz dogs

artículo científico publicado en 2013

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

scholarly article by Nina Mononen et al published 15 January 2006 in Cancer Research

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

scientific article published on 01 November 2018

Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.

artículo científico publicado en 2010

The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds

artículo científico publicado en 2015

Lista de obras de

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

A novel form of progressive retinal atrophy in Swedish vallhund dogs

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

ADAM23 is a common risk gene for canine idiopathic epilepsy

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

Genome wide association study of 40 clinical measurements in eight dog breeds

Germ-line alterations in MSR1 gene and prostate cancer risk

Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

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

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping

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

Interbreed variation of biomarkers of lipid and glucose metabolism in dogs

KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland

LGI2 truncation causes a remitting focal epilepsy in dogs

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

New paraoxonase 1 polymorphism I102V and the risk of prostate cancer in Finnish men.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

Phenotype, inheritance characteristics, and risk factors for idiopathic epilepsy in Finnish Spitz dogs

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.

The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds