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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.
Mol Autism. 2024 Sep 30;15(1):42. doi: 10.1186/s13229-024-00625-1.
Mol Autism. 2024.
PMID: 39350244
Free PMC article.
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.
Fear VS, Forbes CA, Shaw NC, Farley KO, Mantegna JL, Htun JP, Syn G, Viola H, Cserne Szappanos H, Hool L, Ward M, Baynam G, Lassmann T.
Fear VS, et al. Among authors: farley ko.
Stem Cell Res Ther. 2023 Dec 5;14(1):345. doi: 10.1186/s13287-023-03592-1.
Stem Cell Res Ther. 2023.
PMID: 38049901
Free PMC article.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.
Farley KO, Forbes CA, Shaw NC, Kuzminski E, Ward M, Baynam G, Lassmann T, Fear VS.
Farley KO, et al.
HGG Adv. 2024 Jan 11;5(1):100257. doi: 10.1016/j.xhgg.2023.100257. Epub 2023 Nov 24.
HGG Adv. 2024.
PMID: 38007613
Free PMC article.
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