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Increased Ca2+ signaling in NRXN1α+/- neurons derived from ASD induced pluripotent stem cells.
Avazzadeh S, McDonagh K, Reilly J, Wang Y, Boomkamp SD, McInerney V, Krawczyk J, Fitzgerald J, Feerick N, O'Sullivan M, Jalali A, Forman EB, Lynch SA, Ennis S, Cosemans N, Peeters H, Dockery P, O'Brien T, Quinlan LR, Gallagher L, Shen S. Avazzadeh S, et al. Among authors: peeters h. Mol Autism. 2019 Dec 30;10:52. doi: 10.1186/s13229-019-0303-3. eCollection 2019. Mol Autism. 2019. PMID: 31893021 Free PMC article.
The clinical relevance of intragenic NRXN1 deletions.
Cosemans N, Vandenhove L, Vogels A, Devriendt K, Van Esch H, Van Buggenhout G, Olivié H, de Ravel T, Ortibus E, Legius E, Aerssens P, Breckpot J, R Vermeesch J, Shen S, Fitzgerald J, Gallagher L, Peeters H. Cosemans N, et al. Among authors: peeters h. J Med Genet. 2020 May;57(5):347-355. doi: 10.1136/jmedgenet-2019-106448. Epub 2020 Jan 13. J Med Genet. 2020. PMID: 31932357
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.
Cosemans N, Maljaars J, Vogels A, Holvoet M, Devriendt K, Steyaert J, Van Den Bogaert K, Noens I, Peeters H. Cosemans N, et al. Among authors: peeters h. Neurogenetics. 2021 Jul;22(3):207-213. doi: 10.1007/s10048-021-00635-8. Epub 2021 Mar 8. Neurogenetics. 2021. PMID: 33683518
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons.
Avazzadeh S, Quinlan LR, Reilly J, McDonagh K, Jalali A, Wang Y, McInerney V, Krawczyk J, Ding Y, Fitzgerald J, O'Sullivan M, Forman EB, Lynch SA, Ennis S, Feerick N, Reilly R, Li W, Shen X, Yang G, Lu Y, Peeters H, Dockery P, O'Brien T, Shen S, Gallagher L. Avazzadeh S, et al. Among authors: peeters h. BMC Neurosci. 2021 Sep 15;22(1):56. doi: 10.1186/s12868-021-00661-0. BMC Neurosci. 2021. PMID: 34525970 Free PMC article.
Association of CDH11 with non-syndromic ASD.
Crepel A, De Wolf V, Brison N, Ceulemans B, Walleghem D, Peuteman G, Lambrechts D, Steyaert J, Noens I, Devriendt K, Peeters H. Crepel A, et al. Among authors: peeters h. Am J Med Genet B Neuropsychiatr Genet. 2014 Jul;165B(5):391-8. doi: 10.1002/ajmg.b.32243. Epub 2014 May 19. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 24839052
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: peeters h. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
317 results