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List of works by Eija H. Seppälä

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

scientific article published in 2012

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

scientific article (publication date: April 2015)

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

scientific article

A novel form of progressive retinal atrophy in Swedish vallhund dogs

scientific article published on 8 September 2014

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

scientific article

ADAM23 is a common risk gene for canine idiopathic epilepsy

scientific article

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

scientific article published on 03 February 2021

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

scientific article published on 17 August 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

scientific article published on 01 November 2003

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

scientific article published on 8 April 2002

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

scientific article published in PLoS ONE

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

scientific article published on 18 June 2015

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

scientific article

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

scientific article

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

scientific article published on 17 December 2014

Interbreed variation of biomarkers of lipid and glucose metabolism in dogs

scientific article published in December 2018

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

scientific article published on 17 November 2006

LGI2 truncation causes a remitting focal epilepsy in dogs

scientific article

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

scientific article published on 9 June 2015

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

scientific article

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

scientific article published on 01 September 2021

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

scientific article published in October 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.

scientific article

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

scientific article published on 13 May 2015

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