Anni Saarela
Kliininen opettaja
Kliinisen lääketieteen yksikkö, Lääketieteen laitos, Terveystieteiden tiedekunta
anni.saarela@uef.fi
Julkaisut
6/6 kappaletta-
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 -
Geneettiset epilepsiat
Kälviäinen, Reetta; Saarela, Anni; Lehesjoki, Anna-Elina . 2022. Lääkärilehti. 77: 134-137 -
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 -
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 -
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 -
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