Emma Maria Haapaniemi

• Haapaniemi, Emma Maria; Leiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G.J.; Mhaskar, Rahul & Smith, Madison R. [Show all 51 contributors for this article] (2023). Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. Journal of Allergy and Clinical Immunology. ISSN 0091-6749. doi: 10.1016/j.jaci.2022.09.002.
• Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo & Mamia, Katariina Aino Inkeri [Show all 37 contributors for this article] (2021). Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction. Journal of Allergy and Clinical Immunology. ISSN 0091-6749. 148(2), p. 599–611. doi: 10.1016/j.jaci.2020.12.656. Full text in Research Archive
• Reint, Ganna; Li, Zhuokun; Labun, Kornel; Keskitalo, Salla; Soppa, Inkeri & Mamia, Katariina Aino Inkeri [Show all 19 contributors for this article] (2021). Rapid genome editing by CRISPR-Cas9-POLD3 fusion. eLIFE. ISSN 2050-084X. 11. doi: 10.7554/eLife.75415. Full text in Research Archive Show summary

  Precision CRISPR gene editing relies on the cellular homology-directed DNA repair (HDR) to introduce custom DNA sequences to target sites. The HDR editing efficiency varies between cell types and genomic sites, and the sources of this variation are incompletely understood. Here, we have studied the effect of 450 DNA repair protein - Cas9 fusions on CRISPR genome editing outcomes. We find the majority of fusions to improve precision genome editing only modestly in a locus- and cell-type specific manner. We identify Cas9-POLD3 fusion that enhances editing by speeding up the initiation of DNA repair. We conclude that while DNA repair protein fusions to Cas9 can improve HDR CRISPR editing, most need to be optimized to the cell type and genomic site, highlighting the diversity of factors contributing to locus-specific genome editing outcomes.

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• Sakovich, Inga S.; Haapaniemi, Emma Maria; Aleshkevich, Svetlana N.; Pakhomava, Iryna V.; Belobokova, Victoria D. & Poliakova, Ekaterina A. [Show all 15 contributors for this article] (2024). Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant. Journal of Clinical Immunology. ISSN 0271-9142. 44(1). doi: 10.1007/s10875-023-01609-1.
• Sulonen, Anna-Maija; Lehtonen, Johanna; Kaustio, Meri; Edgren, Henrik; Almusa, Henrikki & Ellonen, Pekka [Show all 15 contributors for this article] (2023). Copy number variations from exome sequencing of Finnish inborn errors of immunity cohort.
• Li, Zhuokun; Reint, Ganna & Haapaniemi, Emma Maria (2023). Protocol for editing fibroblasts with in vitro transcribed Cas9 mRNA and profile off-target editing by optimized GUIDE-seq. STAR Protocols. ISSN 2666-1667. 4(4). doi: 10.1016/j.xpro.2023.102662.
• Reint, Ganna; Li, Zhuokun; Labun, Kornel; Keskitalo, Salla; Soppa, Inkeri & Mamia, Katariina Aino Inkeri [Show all 19 contributors for this article] (2022). Rapid genome editing by CRISPR-Cas9-POLD3 fusion. .
• Mamia, Katariina Aino Inkeri; Saarela, Janna Saija; Li, Zhuokun; Reint, Ganna; Fatkhutdinov, Nail & Haugen, Frida Høsøien [Show all 13 contributors for this article] (2022). CRISPR-Cas9 T cell editing pipeline for Finnish founder diseases.

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