A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
Kyöstilä, Kaisa, Cizinauskas, Sigitas, Seppälä, Eija H, Suhonen, Esko, Jeserevics, Janis, Sukura, Antti, Syrjä, Pernilla, Lohi, Hannes
Published in PLoS genetics (01.06.2012)
Published in PLoS genetics (01.06.2012)
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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H, Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in PloS one (01.09.2021)
Published in PloS one (01.09.2021)
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Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
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
Published in PloS one (20.09.2018)
Published in PloS one (20.09.2018)
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LGI2 truncation causes a remitting focal epilepsy in dogs
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
Published in PLoS genetics (01.07.2011)
Published in PLoS genetics (01.07.2011)
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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
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
Published in BMC cardiovascular disorders (05.03.2021)
Published in BMC cardiovascular disorders (05.03.2021)
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A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Farias, Fabiana H.G, Zeng, Rong, Johnson, Gary S, Wininger, Fred A, Taylor, Jeremy F, Schnabel, Robert D, McKay, Stephanie D, Sanders, Douglas N, Lohi, Hannes, Seppälä, Eija H, Wade, Claire M, Lindblad-Toh, Kerstin, O'Brien, Dennis P, Katz, Martin L
Published in Neurobiology of disease (01.06.2011)
Published in Neurobiology of disease (01.06.2011)
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Journal Article
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
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 S., Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian H., Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs
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
Published in PloS one (23.03.2012)
Published in PloS one (23.03.2012)
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Journal Article
Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
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
Published in PLoS genetics (01.06.2015)
Published in PLoS genetics (01.06.2015)
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Journal Article
Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene
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
Published in BMC genomics (18.06.2015)
Published in BMC genomics (18.06.2015)
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Journal Article
A novel form of progressive retinal atrophy in Swedish vallhund dogs
Cooper, Ann E, Ahonen, Saija, Rowlan, Jessica S, Duncan, Alison, Seppälä, Eija H, Vanhapelto, Päivi, Lohi, Hannes, Komáromy, András M
Published in PloS one (08.09.2014)
Published in PloS one (08.09.2014)
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Journal Article
Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
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, Ake, André, Catherine, Lindblad-Toh, Kerstin, Hitte, Christophe, Webster, Matthew T
Published in PLoS genetics (01.10.2011)
Published in PLoS genetics (01.10.2011)
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Journal Article
Germ-Line Alterations in MSR1 Gene and Prostate Cancer Risk
Eija H. Seppälä, Tarja Ikonen, Ville Autio, Annika Rökman, Nina Mononen, Mika P. Matikainen, Teuvo L. J. Tammela, Johanna Schleutker
Published in Clinical cancer research (01.11.2003)
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Published in Clinical cancer research (01.11.2003)
Journal Article
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
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
Published in PloS one (03.02.2021)
Published in PloS one (03.02.2021)
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Journal Article
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2
Qadri, Sami, Anttonen, Olli, Viikilä, Juho, Seppälä, Eija H, Myllykangas, Samuel, Alastalo, Tero-Pekka, Holmström, Miia, Heliö, Tiina, Koskenvuo, Juha W
Published in BMC medical genetics (17.08.2017)
Published in BMC medical genetics (17.08.2017)
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Journal Article
A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease
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
Published in PLoS genetics (01.04.2015)
Published in PLoS genetics (01.04.2015)
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Genome wide association study of 40 clinical measurements in eight dog breeds
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
Published in Scientific reports (16.04.2020)
Published in Scientific reports (16.04.2020)
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Journal Article
Phenotype, inheritance characteristics, and risk factors for idiopathic epilepsy in Finnish Spitz dogs
Viitmaa, Ranno, Cizinauskas, Sigitas, Orro, Toomas, Niilo-Rämä, Meri, Gordin, Emilia, Lohi, Hannes, Seppälä, Eija H, Bragge, Hanna, Snellman, Marjatta
Published in Journal of the American Veterinary Medical Association (01.10.2013)
Published in Journal of the American Veterinary Medical Association (01.10.2013)
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