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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Among authors: fitzgerald je. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152
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. 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. 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
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. BMC Neurosci. 2021 Sep 15;22(1):56. doi: 10.1186/s12868-021-00661-0. BMC Neurosci. 2021. PMID: 34525970 Free PMC article.
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).
Ding Y, O'Brien A, de la Cruz BM, Yang M, Fitzgerald J, Yang G, Li W, McInerney V, Krawczyk J, Lynch SA, Howard L, Allen NM, O'Brien T, Gallagher L, Shen S. Ding Y, et al. Stem Cell Res. 2021 Apr;52:102222. doi: 10.1016/j.scr.2021.102222. Epub 2021 Feb 2. Stem Cell Res. 2021. PMID: 33578364 Free article.
267 results