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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: shen s. 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. Among authors: shen s. Mol Autism. 2019 Dec 30;10:52. doi: 10.1186/s13229-019-0303-3. eCollection 2019. Mol Autism. 2019. PMID: 31893021 Free PMC article.
Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/- and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B).
Ding Y, Marcó de la Cruz B, Xia Y, Liu M, Lu Y, McInerney V, Krawczyk J, Lynch SA, Howard L, O'Brien T, Gallagher L, Shen S. Ding Y, et al. Among authors: shen s. Stem Cell Res. 2019 Dec;41:101653. doi: 10.1016/j.scr.2019.101653. Epub 2019 Nov 13. Stem Cell Res. 2019. PMID: 31759289 Free 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: shen s. 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. Among authors: shen x, shen s. 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. Among authors: shen s. 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.
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B).
Ding Y, O'Brien A, Marcó de la Cruz B, Yang M, Lu Y, Qian X, Yang G, McInerney V, Krawczyk J, Lynch SA, Howard L, Allen NM, O'Brien T, Gallagher L, Shen S. Ding Y, et al. Among authors: shen s. Stem Cell Res. 2021 May;53:102254. doi: 10.1016/j.scr.2021.102254. Epub 2021 Feb 18. Stem Cell Res. 2021. PMID: 33631419 Free article.
Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C).
Arbini A, Gilmore J, King MD, Gorman KM, Krawczyk J, McInerney V, O'Brien T, Shen S, Allen NM. Arbini A, et al. Among authors: shen s. Stem Cell Res. 2020 Jul;46:101853. doi: 10.1016/j.scr.2020.101853. Epub 2020 Jun 1. Stem Cell Res. 2020. PMID: 32540721 Free article.
Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B).
Ge N, Liu M, Krawczyk J, McInerney V, Galvin J, Shen S, O'Brien T, Prendiville T. Ge N, et al. Among authors: shen s. Stem Cell Res. 2019 Aug;39:101502. doi: 10.1016/j.scr.2019.101502. Epub 2019 Jul 26. Stem Cell Res. 2019. PMID: 31415974 Free article.
8,148 results