E. Seppälä

发表

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

H. Lohi, M. Snellman, R. Viitmaa, 2013, Journal of the American Veterinary Medical Association.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

M. Gentile, T. Heliö, S. Tuupanen, 2021, BMC Cardiovascular Disorders.

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

K. Lindblad-Toh, M. Fredholm, J. Häggström, 2015, PloS one.

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

Göran Andersson, Örjan Carlborg, Hannes Lohi, 2015, PLoS genetics.

The Shepherds ' Tale Forsberg , Simon K . G . 2015-05-13

K. Lindblad-Toh, M. Fredholm, Rensen, 2022 .

Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long‐Term Follow‐Up Study

L. Metsähonkala, H. Lohi, T. Jokinen, 2015, Journal of veterinary internal medicine.

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

K. Lindblad-Toh, C. Wade, G. Johnson, 2011, Neurobiology of Disease.

A Novel Form of Progressive Retinal Atrophy in Swedish Vallhund Dogs

S. Ahonen, H. Lohi, A. Komáromy, 2014, PloS one.

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

T. Heliö, S. Myllykangas, O. Pitkänen, 2018, PloS one.

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia

S. Myllykangas, A. Nykänen, K. Lemström, 2022, ERJ Open Research.

Germ-line alterations in MSR1 gene and prostate cancer risk.

J. Schleutker, T. Tammela, A. Rökman, 2003, Clinical cancer research : an official journal of the American Association for Cancer Research.

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

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds

H. Lohi, A. Reuser, E. Seppälä, 2013, PloS one.

Body condition score and triglyceride concentrations and their associations with other markers of energy homeostasis in healthy, non-obese dogs

M. Fredholm, J. Häggström, H. Lohi, 2022, bioRxiv.

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

S. Myllykangas, J. Koskenvuo, K. Alakurtti, 2021, PloS one.

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Hannes Lohi, Pernilla Syrjä, H. Lohi, 2012, PLoS genetics.

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

T. Lehtimäki, J. Schleutker, O. Kallioniemi, 2003, Journal of the National Cancer Institute.

Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

K. Lindblad-Toh, T. Derrien, C. Lawley, 2011, PLoS genetics.

CHEK2 variants associate with hereditary prostate cancer

J. Schleutker, T. Tammela, A. Rökman, 2003, British Journal of Cancer.

Heterogeneity in Genetic Susceptibility to Prostate Cancer

E. Seppälä, 2006 .

Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies.

S. Wood, X. Ke, W. Ollier, 2011, Animal genetics.

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

T. Ojala, M. Gentile, S. Ahonen, 2021, PloS one.

BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland

J. Schleutker, T. Tammela, O. Kallioniemi, 2003, Journal of medical genetics.

Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.

J. Schleutker, T. Tammela, O. Kallioniemi, 2006, Cancer research.

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

J. Carpten, J. Trent, J. Schleutker, 2002, American journal of human genetics.

Interbreed variation in serum serotonin (5-hydroxytryptamine) concentration in healthy dogs.

M. Fredholm, J. Häggström, H. Lohi, 2018, Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology.

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

T. Heliö, S. Myllykangas, O. Anttonen, 2017, BMC Medical Genetics.

KLF6 IVS1 -27G>A variant and the risk of prostate cancer in Finland.

J. Schleutker, T. Tammela, A. Auvinen, 2007, European urology.

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

K. Lindblad-Toh, J. Rilstone, M. Webster, 2011, PLoS genetics.

LGI 2 Truncation Causes a Remitting Focal Epilepsy in Dogs Seppälä

K. Lindblad-Toh, J. Rilstone, M. Webster, 2022 .

Breed Differences in Natriuretic Peptides in Healthy Dogs

K. Lindblad-Toh, M. Georges, M. Fredholm, 2014, Journal of veterinary internal medicine.

Interbreed variation of biomarkers of lipid and glucose metabolism in dogs

M. Fredholm, J. Häggström, H. Lohi, 2018, Veterinary clinical pathology.

A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

J. Kere, P. Wohlsein, C. Drögemüller, 2015, PLoS genetics.

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

M. Fredholm, H. Lohi, A. Oberbauer, 2012, PloS one.

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

H. Lohi, A. Oberbauer, O. Hakosalo, 2015, BMC Genomics.

ADAM23 is a common risk gene for canine idiopathic epilepsy

P. Quignon, H. Lohi, C. André, 2017, BMC Genetics.

Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations

H. Lohi, H. Bok, P. Leegwater, 2017, Journal of veterinary internal medicine.

Regional occurrence, high frequency but low diversity of mitochondrial DNA haplogroup d1 suggests a recent dog-wolf hybridization in Scandinavia

M. Uhlén, T. Fall, P. Savolainen, 2011, Animal genetics.

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

M. Uhlén, P. Savolainen, H. Lohi, 2010, International Journal of Legal Medicine.

Effect of Breed on Plasma Endothelin‐1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs

K. Lindblad-Toh, M. Fredholm, J. Häggström, 2016, Journal of veterinary internal medicine.

Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy

Meharji Arumilli, Hannes Lohi, András M. Komáromy, 2014, PloS one.

ADAM23 is a common risk gene for canine idiopathic epilepsy

P. Quignon, H. Lohi, C. André, 2017, BMC Genetics.

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

M. Georges, Y. Momozawa, M. Fredholm, 2020, Scientific Reports.

Title Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM 23 gene

H. Lohi, A. Oberbauer, P. Jokinen, 2015 .

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

M. Georges, Y. Momozawa, M. Fredholm, 2020, Scientific Reports.

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

K. Lindblad-Toh, C. Wade, G. Johnson, 2011, Neurobiology of Disease.