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

por Seppälä, Eija H., Reuser, Arnold J. J., Lohi, Hannes
Publicado 2013

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

por Klütsch, Cornelya F. C., Seppälä, Eija H., Uhlén, Mathias, Lohi, Hannes, Savolainen, Peter
Publicado 2010

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia

por Stark, Christoffer, Koskenvuo, Juha W., Nykänen, Antti, Seppälä, Eija H., Myllykangas, Samuel, Lemström, Karl, Raivio, Peter
Publicado 2022

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

por Kyöstilä, Kaisa, Cizinauskas, Sigitas, Seppälä, Eija H., Suhonen, Esko, Jeserevics, Janis, Sukura, Antti, Syrjä, Pernilla, Lohi, Hannes
Publicado 2012

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

por Ahonen, Saija J., Arumilli, Meharji, Seppälä, Eija, Hakosalo, Osmo, Kaukonen, Maria K., Komáromy, András M., Lohi, Hannes
Publicado 2014

A Novel Form of Progressive Retinal Atrophy in Swedish Vallhund Dogs

por Cooper, Ann E., Ahonen, Saija, Rowlan, Jessica S., Duncan, Alison, Seppälä, Eija H., Vanhapelto, Päivi, Lohi, Hannes, Komáromy, András M.
Publicado 2014

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

por Qadri, Sami, Anttonen, Olli, Viikilä, Juho, Seppälä, Eija H., Myllykangas, Samuel, Alastalo, Tero-Pekka, Holmström, Miia, Heliö, Tiina, Koskenvuo, Juha W.
Publicado 2017

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

por Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H., Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Publicado 2021

ADAM23 is a common risk gene for canine idiopathic epilepsy

por Koskinen, Lotta L. E., Seppälä, Eija H., Weissl, Jutta, Jokinen, Tarja S., Viitmaa, Ranno, Hänninen, Reetta L., Quignon, Pascale, Fischer, Andrea, André, Catherine, Lohi, Hannes
Publicado 2017

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

por Koskinen, Lotta L. E., Seppälä, Eija H., Belanger, Janelle M., Arumilli, Meharji, Hakosalo, Osmo, Jokinen, Päivi, Nevalainen, Elisa M., Viitmaa, Ranno, Jokinen, Tarja S., Oberbauer, Anita M., Lohi, Hannes
Publicado 2015

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

por Seppälä, Eija H., Koskinen, Lotta L. E., Gulløv, Christina H., Jokinen, Päivi, Karlskov-Mortensen, Peter, Bergamasco, Luciana, Baranowska Körberg, Izabella, Cizinauskas, Sigitas, Oberbauer, Anita M., Berendt, Mette, Fredholm, Merete, Lohi, Hannes
Publicado 2012

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

por Vanninen, Sari U. M., Leivo, Krista, Seppälä, Eija H., Aalto-Setälä, Katriina, Pitkänen, Olli, Suursalmi, Piia, Annala, Antti-Pekka, Anttila, Ismo, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M., Koskenvuo, Juha W.
Publicado 2018

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

por Wilbe, Maria, Kozyrev, Sergey V., Farias, Fabiana H. G., Bremer, Hanna D., Hedlund, Anna, Pielberg, Gerli R., Seppälä, Eija H., Gustafson, Ulla, Lohi, Hannes, Carlborg, Örjan, Andersson, Göran, Hansson-Hamlin, Helene, Lindblad-Toh, Kerstin
Publicado 2015

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

por Momozawa, Yukihide, Merveille, Anne-Christine, Battaille, Géraldine, Wiberg, Maria, Koch, Jørgen, Willesen, Jakob Lundgren, Proschowsky, Helle Friis, Gouni, Vassiliki, Chetboul, Valérie, Tiret, Laurent, Fredholm, Merete, Seppälä, Eija H., Lohi, Hannes, Georges, Michel, Lequarré, Anne-Sophie
Publicado 2020

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

por Seppälä, Eija H., Jokinen, Tarja S., Fukata, Masaki, Fukata, Yuko, Webster, Matthew T., Karlsson, Elinor K., Kilpinen, Sami K., Steffen, Frank, Dietschi, Elisabeth, Leeb, Tosso, Eklund, Ranja, Zhao, Xiaochu, Rilstone, Jennifer J., Lindblad-Toh, Kerstin, Minassian, Berge A., Lohi, Hannes
Publicado 2011

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

por Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppälä, Eija H., Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytölä, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenperä, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha
Publicado 2021

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

por Vaysse, Amaury, Ratnakumar, Abhirami, Derrien, Thomas, Axelsson, Erik, Rosengren Pielberg, Gerli, Sigurdsson, Snaevar, Fall, Tove, Seppälä, Eija H., Hansen, Mark S. T., Lawley, Cindy T., Karlsson, Elinor K., Bannasch, Danika, Vilà, Carles, Lohi, Hannes, Galibert, Francis, Fredholm, Merete, Häggström, Jens, Hedhammar, Åke, André, Catherine, Lindblad-Toh, Kerstin, Hitte, Christophe, Webster, Matthew T.
Publicado 2011

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

por Kyöstilä, Kaisa, Syrjä, Pernilla, Jagannathan, Vidhya, Chandrasekar, Gayathri, Jokinen, Tarja S., Seppälä, Eija H., Becker, Doreen, Drögemüller, Michaela, Dietschi, Elisabeth, Drögemüller, Cord, Lang, Johann, Steffen, Frank, Rohdin, Cecilia, Jäderlund, Karin H., Lappalainen, Anu K., Hahn, Kerstin, Wohlsein, Peter, Baumgärtner, Wolfgang, Henke, Diana, Oevermann, Anna, Kere, Juha, Lohi, Hannes, Leeb, Tosso
Publicado 2015

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

por Forsberg, Simon K. G., Kierczak, Marcin, Ljungvall, Ingrid, Merveille, Anne-Christine, Gouni, Vassiliki, Wiberg, Maria, Lundgren Willesen, Jakob, Hanås, Sofia, Lequarré, Anne-Sophie, Mejer Sørensen, Louise, Tiret, Laurent, McEntee, Kathleen, Seppälä, Eija, Koch, Jørgen, Battaille, Géraldine, Lohi, Hannes, Fredholm, Merete, Chetboul, Valerie, Häggström, Jens, Carlborg, Örjan, Lindblad-Toh, Kerstin, Höglund, Katja
Publicado 2015

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

por Koskenvuo, Juha W., Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppälä, Eija H., Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Heliö, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H., Vepsäläinen, Ville, Kytölä, Ville, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Publicado 2021