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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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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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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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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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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Journal Article
Interbreed variation of biomarkers of lipid and glucose metabolism in dogs
Gomez‐Fernandez‐Blanco, Carlos, Peeters, Dominique, Moyse, Evelyne, Farnir, Frédéric, Höglund, Katja, Gouni, Vassiliki, Wiberg, Maria, Lundgren Willesen, Jakob, Hanås, Sofia, McEntee, Kathleen, Tiret, Laurent, Häggström, Jens, Lohi, Hannes, Chetboul, Valérie, Fredholm, Merete, Seppälä, Eija H, Lequarré, Anne‐Sophie, Merveille, Anne‐Christine
Published in Veterinary clinical pathology (01.12.2018)
Published in Veterinary clinical pathology (01.12.2018)
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Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors
MONONEN, Nina, SEPPÄLÄ, Eija H, KALLIONIEMI, Olli, BAILEY-WILSON, Joan E, SCHLEUTKER, Johanna, DUGGAL, Priya, AUTIO, Ville, IKONEN, Tarja, ELLONEN, Pekka, SAHARINEN, Juha, SAARELA, Janna, VIHINEN, Mauno, TAMMELA, Teuvo L. J
Published in Cancer research (Chicago, Ill.) (15.01.2006)
Published in Cancer research (Chicago, Ill.) (15.01.2006)
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Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees
Klütsch, Cornelya F. C., Seppälä, Eija H., Uhlén, Mathias, Lohi, Hannes, Savolainen, Peter
Published in International journal of legal medicine (01.07.2011)
Published in International journal of legal medicine (01.07.2011)
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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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Journal Article
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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KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland
Seppälä, Eija H, Autio, Ville, Duggal, Priya, Ikonen, Tarja, Stenman, Ulf-Håkan, Auvinen, Anssi, Bailey-Wilson, Joan E, Tammela, Teuvo L.J, Schleutker, Johanna
Published in European urology (01.10.2007)
Published in European urology (01.10.2007)
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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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Journal Article
ADAM23 is a common risk gene for canine idiopathic epilepsy
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
Published in BMC genetics (31.01.2017)
Published in BMC genetics (31.01.2017)
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Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex
Lindblad-Toh, Kerstin, Wilbe, Maria, Jokinen, Päivi, Truvé, Katarina, Seppala, Eija H, Karlsson, Elinor K, Biagi, Tara, Hughes, Angela, Bannasch, Danika, Andersson, Göran, Hansson-Hamlin, Helene, Lohi, Hannes
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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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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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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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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