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

di Seppälä, Eija H., Reuser, Arnold J. J., Lohi, Hannes
Pubblicazione 2013

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

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

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

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

A Novel Form of Progressive Retinal Atrophy in Swedish Vallhund Dogs

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

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

di Qadri, Sami, Anttonen, Olli, Viikilä, Juho, Seppälä, Eija H., Myllykangas, Samuel, Alastalo, Tero-Pekka, Holmström, Miia, Heliö, Tiina, Koskenvuo, Juha W.
Pubblicato in BMC Med Genet (2017)

ADAM23 is a common risk gene for canine idiopathic epilepsy

di 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
Pubblicato in BMC Genet (2017)

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

di 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
Pubblicato in BMC Genomics (2015)

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

di 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
Pubblicazione 2012

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

di 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.
Pubblicato in PLoS One (2018)

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

di 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
Pubblicato in PLoS Genet (2015)

Germline Alterations of the RNASEL Gene, a Candidate HPC1 Gene at 1q25, in Patients and Families with Prostate Cancer

di Rökman, Annika, Ikonen, Tarja, Seppälä, Eija H., Nupponen, Nina, Autio, Ville, Mononen, Nina, Bailey-Wilson, Joan, Trent, Jeffrey, Carpten, John, Matikainen, Mika P., Koivisto, Pasi A., Tammela, Teuvo L. J., Kallioniemi, Olli-P., Schleutker, Johanna
Pubblicazione 2002

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

di 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
Pubblicato in Sci Rep (2020)

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

di 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
Pubblicazione 2011

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

di 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
Pubblicato in BMC Cardiovasc Disord (2021)

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

di 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.
Pubblicazione 2011

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

di 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
Pubblicato in PLoS Genet (2015)

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

di 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
Pubblicato in PLoS One (2021)

Scaling Resolution of Variant Classification Differences in ClinVar between 41 Clinical Laboratories Through an Outlier Approach

di Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar-Heyming, Rebecca, McFaddin, Andrew, Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian, Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.
Pubblicato in Hum Mutat (2018)