Recent and selected publications

Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndrome. Mzezewa R, Hyvärinen T, Kulta O, Vinogradov A, Pesu E, Isosaari L, Vuolanto V, Kapucu FE, Schuster J, Dahl N, Narkilahti S. Neurosci Res. 2025 Sep 19;220:104958. doi: 10.1016/j.neures.2025.104958. PMID: 40976436 Free article.

Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response. Fineschi S, Klar J, Lopez Egido JR, Schuster J, Bergquist J, Kaden R, Dahl N. Front Immunol. 2025 May 30;16:1589589. doi: 10.3389/fimmu.2025.1589589. eCollection 2025.PMID: 40519915 Free PMC article.

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation. Arce M, Erzar I, Yang F, Senthilkumar N, Onyeogaziri FC, Ronchi D, Ahlstrand FC, Noll N, Lugano R, Richards M, Scola E, Corada M, Lazzaroni F, Meggiolaro L, Schuster J, Dahl N, Niemelä M, Jahromi BR, Dimberg A, Lanfraconi S, Latini R, Magnusson PU. Cell Rep. 2025 May 27;44(5):115576. doi: 10.1016/j.celrep.2025.115576. Epub 2025 Apr 14. PMID: 40238631 Free article.

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications. Schuster J, Lu X, Dang Y, Klar J, Wenz A, Dahl N, Chen X. Elife. 2024 Aug 27;12:RP92599. doi: 10.7554/eLife.92599. PMID: 39190448 Free PMC article.

Generation of a ZEB2 deficient human iPSC line (KICRi002A-4). Schuster J, Fatima A, Papadopoulos N, de Guidi C, Sobol M, Dahl N. Stem Cell Res. 2024 Oct;80:103521. doi: 10.1016/j.scr.2024.103521. Epub 2024 Jul 31. PMID: 39121652 Free article.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome. Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR et al.; Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS); EMTICS collaborative group; Dietrich A; TS-EUROTRAIN Network. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. PMID: 36823209 Free PMC article.

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function. Schuster J, Klar J, Khalfallah A, Laan L, Hoeber J, Fatima A, Sequeira VM, Jin Z, Korol SV, Huss M, Nordgren A, Anderlid BM, Gallant C, Birnir B, Dahl N. Front Mol Neurosci. 2022 Oct 24;15:988993. doi: 10.3389/fnmol.2022.988993. eCollection 2022. PMID: 36353360 Free PMC article.

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia. Fineschi S, Klar J, Gustafsson KA, Jonsson K, Karlsson B, Dahl N. Front Immunol. 2022 May 26;13:874490. doi: 10.3389/fimmu.2022.874490. eCollection 2022. PMID: 35693781 Free PMC article.

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Am J Hum Genet. 2022 Mar 3;109(3):542-546. doi: 10.1016/j.ajhg.2022.02.007. PMID: 35245475 Free PMC article.

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2. Schuster J, de Guidi C, Tripathi R, Klar J, Dahl N. Stem Cell Res. 2022 Apr;60:102712. doi: 10.1016/j.scr.2022.102712. Epub 2022 Feb 16. PMID: 35203050 Free article.

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model. Schuy J, Eisfeldt J, Pettersson M, Shahrokhshahi N, Moslem M, Nilsson D, Dahl N, Shahsavani M, Falk A, Lindstrand A. Front Genet. 2022 Feb 4;12:803683. doi: 10.3389/fgene.2021.803683. eCollection 2021. PMID: 35186010 Free PMC art