Anni Saarela - UEFConnect

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Epilepsy care pathway: The Finnish model
Kälviäinen, Reetta; Hadj‐Allal, Zakarya; Kirjavainen, Jarkko; Roivainen, Reina; Linnankivi, Tarja; Peltola, Jukka; Eriksson, Kai; Lamusuo, Salla; Lähdesmäki, Tuire; Annunen, Johanna; Vieira, Päivi; Tarkiainen, Virpi; Jutila, Leena; Saarela, Anni; Kämppi, Leena; Metsähonkala, Liisa; Gaily, Eija; Lähde, Niina; Antinmaa, Jaana; Erme, Sini; Pirttisalo, Anna‐Leena; Virolainen, Jari; Ylijoki, Milla; Kela, Laura; Komulainen‐Ebrahim, Jonna; Sorjonen, Paula; undefined,. 2024. Epilepsia open. [First published: 09 November 2024]: 1-9 A1 Journal article (refereed), original research
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Mar. 2024. Nature neuroscience. 27: 1864-1879 A1 Journal article (refereed), original research
Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy
Saarela, Anni; Timonen, Oskari; Kirjavainen, Jarkko; Liu, Yawu; Silvennoinen, Katri; Mervaala, Esa; Kälviäinen, Reetta. 2024. Epileptic disorders. 26: 498-509 A1 Journal article (refereed), original research
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
International League Against Epilepsy Consortium on Complex Epilepsies. 2023. Nature genetics. 55: 1471-1482 A1 Journal article (refereed), original research
Geneettiset epilepsiat
Kälviäinen, Reetta; Saarela, Anni; Lehesjoki, Anna-Elina . 2022. Lääkärilehti. 77: 134-137 A2 Review article, Literature review, Systematic review
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Koko, Mahmoud; Krause, Roland; Sander, Thomas; Bobbili, Dheeraj Reddy; Nothnagel, Michael; May, Patrick; Lerche, Holger; Epi25 Collaborative [incl. Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni]. 2021. EBioMedicine. 72: 103588 A1 Journal article (refereed), original research
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Järvelä, Irma; Määttä, Tuomo; Acharya, Anushree; Leppälä, Juha; Jhangiani, Shalini N; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomäki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kälviäinen, Reetta; Olme, Jan; Nouel-Saied, Liz M et al.. 2021. Human genetics. 140: 1011-1029 A1 Journal article (refereed), original research
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Niestroj, Lisa-Marie; Perez-Palma, Eduardo; Howrigan, Daniel P; Zhou, Yadi; Cheng, Feixiong; Saarentaus, Elmo; Nürnberg, Peter; Stevelink, Remi; Daly, Mark J; Palotie, Aarno; Lal, Dennis; Epi25 Collaborative (incl. Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni). 2020. Brain. 143: 2106-2118 A1 Journal article (refereed), original research
Polygenic burden in focal and generalized epilepsies
Leu, Costin; Stevelink, Remi; Smith, Alexander W; Goleva, Slavina B; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M; Cavalleri, Gianpiero L; Koeleman, Bobby PC; Lerche, Holger; Jehi, Lara; Davis, Lea K; Najm, Imad M; Palotie, Aarno; Epi25 Consortium (incl. Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni). 2019. Brain. 142: 3473-3481 A1 Journal article (refereed), original research