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Siste publikasjoner

Oversikt over våre siste publikasjoner registrert i Cristin.

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  • Saarela, Janna Saija (2022). Lecture.
  • Saarela, Janna Saija (2022). Key note lecture.
  • Saarela, Janna Saija (2022). From WES/WGS to diagnosis.
  • Reint, Ganna; Li, Zhuokun; Labun, Kornel; Keskitalo, Salla; Soppa, Inkeri & Mamia, Katariina Aino Inkeri [Vis alle 19 forfattere av denne artikkelen] (2022). Rapid genome editing by CRISPR-Cas9-POLD3 fusion. .
  • Lehtonen, Johanna; Hakonen, Anna H; Hassinen, Antti; Sulonen, Anna-Maija; Almusa, Henrikki & Palomäki, Maarit [Vis alle 14 forfattere av denne artikkelen] (2022). CCDC88A variants underly malformations of cortical development, profound developmental delay, epilepsy, and immune dysfunction.
  • Lehtonen, Johanna; Hakonen, Anna H; Hassinen, Antti; Sulonen, Anna-Maija; Almusa, Henrikki & Palomäki, Maarit [Vis alle 14 forfattere av denne artikkelen] (2022). CCDC88A variants underly malformations of cortical development, profound developmental delay, epilepsy, and immune dysfunction.
  • Lehtonen, Johanna; Hakonen, Anna H; Hassinen, Antti; Sulonen, Anna-Maija; Almusa, Henrikki & Palomäki, Maarit [Vis alle 13 forfattere av denne artikkelen] (2022). Genome sequencing reveals CCDC88A variants underlying malformations of cortical development, profound developmental delay, epilepsy, and immune dysfunction.
  • Lehtonen, Johanna; Sulonen, Anna-Maija; Almusa, Henrikki & Saarela, Janna Saija (2022). Gaining long-read information synthetically using linked reads.
  • Mamia, Katariina Aino Inkeri; Saarela, Janna Saija; Li, Zhuokun; Reint, Ganna; Fatkhutdinov, Nail & Haugen, Frida Høsøien [Vis alle 13 forfattere av denne artikkelen] (2022). CRISPR-Cas9 T cell editing pipeline for Finnish founder diseases.
  • Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok & Akarsu, Nurten [Vis alle 51 forfattere av denne artikkelen] (2022). Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients (Journal of Clinical Immunology, (2021), 41, 7, (1633-1647), 10.1007/s10875-021-01098-0). Journal of Clinical Immunology. ISSN 0271-9142. doi: 10.1007/s10875-022-01280-y.
  • Ben Guebila, Marouen; Weighill, Deborah; Lopes-Ramos, Camila M.; Burkholz, Rebekka; Pop, Romana-Tabita & Palepu, Kalyan [Vis alle 14 forfattere av denne artikkelen] (2022). An online notebook resource for reproducible inference, analysis and publication of gene regulatory networks. Nature Methods. ISSN 1548-7091. 19, s. 511–513. doi: 10.1038/s41592-022-01479-2.
  • Bjørgo, Elisa; Solheim, Silje Anette; Abrahamsen, Hilde; Baillie, George S.; Brown, Kim M. & Berge, Torunn [Vis alle 9 forfattere av denne artikkelen] (2022). Erratum: Cross Talk between Phosphatidylinositol 3-Kinase and Cyclic AMP (cAMP)-Protein Kinase A Signaling Pathways at the Level of a Protein Kinase B/b-Arrestin/cAMP Phosphodiesterase 4 Complex (Molecular and Cellular Biology (2010) 30:7 (1660–1672) DOI: 10.1128/MCB.00696-09). Molecular and Cellular Biology. ISSN 0270-7306. 42(2). doi: 10.1128/mcb.00556-21.
  • Ali-Ahmad, Ahmad & Darby, Annabel (2020). NCMM visit to MIMS, Umeå, to learn the A-Z of cryo-EM.
  • Lehtonen, Johanna; Almusa, Henrikki; Savarese, Marco & Saarela, Janna Saija (2020). Haplotype and variant phasing of large muscle genes using linked-read sequencing.
  • Fromm, Bastian; Domanska, Diana; Høye, Eirik; Ovchinnikov, Vladimir; Kang, Wenjing & Aparicio-Puerta, Ernesto [Vis alle 13 forfattere av denne artikkelen] (2020). Erratum: MirGeneDB 2.0: The metazoan microRNA complement (Nucleic Acids Research (2019) DOI: 10.1093/nar/gkz885). Nucleic Acids Research (NAR). ISSN 0305-1048. 48(1). doi: 10.1093/nar/gkz1016.
  • Tran, Vi Ngoc-Nha; Shams, Alireza; Ascioglu, Sinan; Martinecz, Antal; Liang, Jingyi & Clarelli, Fabrizio [Vis alle 9 forfattere av denne artikkelen] (2020). vCOMBAT: a novel tool to create and visualize a computational model of bacterial antibiotic target-binding.
  • Lehtonen, Johanna; Lehtokari, Vilma-Lotta; Almusa, Henrikki; Sulonen, Anna-Maija; Saarela, Janna Saija & Wallgren-Pettersson, Carina [Vis alle 7 forfattere av denne artikkelen] (2019). Linked-read whole genome sequencing in patients with congenital myopathy.
  • Gheorghe, Marius; Sandve, Geir Kjetil Ferkingstad; Khan, Aziz; Chèneby, Jeanne; Ballester, Benoit & Mathelier, Anthony (2019). Erratum: A map of direct TF-DNA interactions in the human genome (Nucleic acids research (2019) 47 4 (e21)). Nucleic Acids Research (NAR). ISSN 0305-1048. 47(14). doi: 10.1093/nar/gkz582.
  • Sharapova, Svetlana O.; Haapaniemi, Emma; Sakovich, Inga S.; Kostyuchenko, Larysa V.; Donkó, Agnes & Dulau-Florea, Alina [Vis alle 15 forfattere av denne artikkelen] (2019). Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. Clinical Immunology. ISSN 1521-6616. 205, s. 1–5. doi: 10.1016/j.clim.2019.05.003.

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