Biblio

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2023

Molloy CJ, Cooke J, Gatford NJF, Rivera-Olvera A, Avazzadeh S, Homberg JR, Grandjean J, Fernandes C, Shen S, Loth E, et al. Bridging the translational gap: what can synaptopathies tell us about autism?. Front Mol Neurosci. 2023;16:1191323.

Stewart R, Gadoud C, Krawczyk J, McInerney V, O'Brien T, Shen S, Allen NM. Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi. Stem Cell Res. 2023;69:103093.

Stewart R, Gadoud C, Krawczyk J, McInerney V, O'Brien T, Shen S, Allen NM. Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi. Stem Cell Res. 2023;71:103191.

Salazar-Noratto GE, Nations CC, Stevens HY, Xu M, Gaynard S, Dooley C, de Nijs N, McDonagh K, Shen S, S Willimon C, et al. Patient-Specific iPSC-Derived Models Link Aberrant Endoplasmic Reticulum Stress Sensing and Response to Juvenile Osteochondritis Dissecans Etiology. Stem Cells Transl Med. 2023;12(5):293-306.

Ge N, Liu M, Li R, Allen NM, Galvin J, Shen S, O'Brien T, Prendiville TW. Using Ribonucleoprotein-based CRISPR/Cas9 to Edit Single Nucleotide on Human Induced Pluripotent Stem Cells to Model Type 3 Long QT Syndrome (SCN5A). Stem Cell Rev Rep. 2023.

2022

Ding Y, Carvalho E, Murphy C, McInerney V, Krawczyk J, O'Brien T, Howard L, Cai L, Shen S. Corrigendum to "Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)" [Stem Cell Res. (43) 2020 101665]. Stem Cell Res. 2022;63:102850.

2021

Ding Y, O'Brien A, de la Cruz BMarcó, Yang M, Lu Y, Qian X, Yang G, McInerney V, Krawczyk J, Lynch SA, et al. 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). Stem Cell Res. 2021;53:102254.

Ding Y, O'Brien A, de la Cruz BMarcó, Yang M, Fitzgerald J, Yang G, Li W, McInerney V, Krawczyk J, Lynch SA, et al. 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). Stem Cell Res. 2021;52:102222.

Liu M, Ge N, Han Y, Reilly J, Yang M, Yang F, Krawczyk J, McInerney V, O'Brien T, Prendiville T, et al. Generation and characterization of three induced pluripotent stem cell lines (NUIGi046-A, NUIGi046-B, NUIGi046-C) from a 51-year-old healthy individual. Stem Cell Res. 2021;57:102607.

2020

de la Cruz BMarcó, Ding Y, McInerney V, Krawczyk J, Lu Y, Yang G, Qian X, Li W, Howard L, Allen NM, et al. Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A). Stem Cell Res. 2020;44:101722.

Ge N, Liu M, Krawczyk J, McInerney V, Ward D, Shen S, O'Brien T, Prendiville T. Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant. Stem Cell Res. 2020;49:101997.

Ge N, Liu M, Zhu X, Krawczyk J, McInerney V, Shen S, O'Brien T, Prendiville T. Generation and characterization of two induced pluripotent stem cell lines (NUIGi038-A, NUIGi038-B) from dermal fibroblasts of a healthy individual. Stem Cell Res. 2020;49:101996.

Yang M, Liu M, Ding Y, Vajda A, Ma J, Cui H, O'Brien T, Henshall D, Hardiman O, Shen S. Generation of twelve induced pluripotent stem cell lines from two healthy controls and two patients with sporadic amyotrophic lateral sclerosis. Stem Cell Res. 2020;44:101752.

Feng B, Ma J, Amponsah AErnest, Guo R, Kong D, He J, Jiang Y, Zhang W, Zhang Z, Song Y, et al. Induced pluripotent stem cell line derived from a sporadic amyotrophic lateral sclerosis patient. Stem Cell Res. 2020;45:101841.

2019

Ding Y, de la Cruz BMarcó, Xia Y, Liu M, Lu Y, McInerney V, Krawczyk J, Lynch SA, Howard L, O'Brien T, et al. 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). Stem Cell Res. 2019;41:101653.

Ding Y, Carvalho E, Murphy C, McInerney V, Krawczyk J, O'Brien T, Howard L, Cai L, Shen S. Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A). Stem Cell Res. 2019;43:101665.

Ma J, Guo R, Song Y, Zhang J, Feng B, Amponsah AErnest, Kong D, He J, Zhang W, Liu A, et al. Generation and characterization of a human induced pluripotent stem cell (iPSC) line (HEBHMUi001-A) from a sporadic Parkinson's disease patient. Stem Cell Res. 2019;36:101417.

Ge N, Liu M, Ding Y, Krawczyk J, McInerney V, Galvin J, Shen S, Prendiville T, O'Brien T. Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation. Stem Cell Res. 2019;41:101650.

Ge N, Liu M, Krawczyk J, McInerney V, Galvin J, Shen S, O'Brien T, Prendiville T. 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-. Stem Cell Res. 2019;39:101502.

Yang M, Liu M, Vajda A, O'Brien T, Henshall D, Hardiman O, Shen S. Generation of six induced pluripotent stem cell (iPSC) lines from two patients with amyotrophic lateral sclerosis (NUIGi043-A, NUIGi043-B, NUIGi043-C, NUIGi044-A, NUIGi044-B, NUIGi044-C). Stem Cell Res. 2019;40:101558.

Avazzadeh S, McDonagh K, Reilly J, Wang Y, Boomkamp SD, McInerney V, Krawczyk J, Fitzgerald J, Feerick N, O'Sullivan M, et al. Increased Ca signaling in neurons derived from ASD induced pluripotent stem cells. Mol Autism. 2019;10:52.

2016

Liu M, Guan Z, Shen Q, Flinter F, Domínguez L, Ahn JWook, Collier DA, O'Brien T, Shen S. Ulk4 Regulates Neural Stem Cell Pool. Stem Cells. 2016.

2015

Domínguez L, Schlosser G, Shen S. Expression of a novel serine/threonine kinase gene, Ulk4, in neural progenitors during Xenopus laevis forebrain development. Neuroscience. 2015.