Janna Saija Saarela

Bilde av Janna Saija Saarela
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Telefon +47 22840553
Brukernavn
Besøksadresse Gaustadalléen 21 Forskningsparken 0349 Oslo
Postadresse Postboks 1137 Blindern 0318 Oslo

Publikasjoner

  • Perälä, Miia; Kaustio, Meri; Salava, Alexander; Jakkula, Eveliina; Pelkonen, Anna S. & Saarela, Janna Saija [Vis alle 8 forfattere av denne artikkelen] (2023). Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis. JID Innovations. 3(4). doi: 10.1016/j.xjidi.2023.100203.
  • Brandt, E.; Harjama, L.; Elomaa, O.; Saarela, Janna Saija; Donner, K. & Lappalainen, K. [Vis alle 11 forfattere av denne artikkelen] (2023). A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma. Journal of the European Academy of Dermatology and Venereology. ISSN 0926-9959. doi: 10.1111/jdv.19498.
  • Olkinuora, Alisa; Nieminen, Taina T.; Douglas, Suvi; Kauppinen, Anni; Kontro, Mika & Väänänen, Juho [Vis alle 20 forfattere av denne artikkelen] (2023). Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia. Leukemia. ISSN 0887-6924. doi: 10.1038/s41375-023-02021-9.
  • Lee, Pui Y.; Davidson, Brad A.; Abraham, Roshini S.; Alter, Blanche; Arostegui, Juan I. & Bell, Katherine [Vis alle 41 forfattere av denne artikkelen] (2023). Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement. JAMA Network Open. ISSN 2574-3805. 6(5). doi: 10.1001/jamanetworkopen.2023.15894.
  • Santaniemi, Wenny; Åström, Pirjo; Glumoff, Virpi; Pernaa, Nora; Tallgren, Ella-Noora & Palosaari, Sanna [Vis alle 14 forfattere av denne artikkelen] (2023). Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis. Journal of Clinical Immunology. ISSN 0271-9142. 43, s. 1007–1018. doi: 10.1007/s10875-023-01461-3.
  • Tuovinen, Elina A.; Kuismin, Outi; Soikkonen, Leila; Martelius, Timi; Kaustio, Meri & Hamalainen, Sari [Vis alle 15 forfattere av denne artikkelen] (2022). Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Clinical Immunology. ISSN 1521-6616. doi: 10.1016/j.clim.2022.109181. Fulltekst i vitenarkiv
  • Goris, An; Vandebergh, Marijne; McCauley, Jacob L; Saarela, Janna Saija & Cotsapas, Chris (2022). Genetics of multiple sclerosis: lessons from polygenicity. Lancet Neurology. ISSN 1474-4422. 21(9), s. 830–842. doi: 10.1016/S1474-4422(22)00255-1.
  • Karvonen, V.; Harjama, L.; Heliö, K.; Kettunen, K.; Elomaa, O. & Koskenvuo, J.W. [Vis alle 13 forfattere av denne artikkelen] (2022). A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign. Journal of the European Academy of Dermatology and Venereology. ISSN 0926-9959. 36(8), s. 1349–1358. doi: 10.1111/jdv.18164. Fulltekst i vitenarkiv
  • Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Ok Bozkaya, Ikbal & Akarsu, Nurten [Vis alle 51 forfattere av denne artikkelen] (2021). Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. Journal of Clinical Immunology. ISSN 0271-9142. doi: 10.1007/s10875-021-01098-0. Fulltekst i vitenarkiv
  • Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo & Mamia, Katariina Aino Inkeri [Vis alle 37 forfattere av denne artikkelen] (2021). Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction. Journal of Allergy and Clinical Immunology. ISSN 0091-6749. 148(2), s. 599–611. doi: 10.1016/j.jaci.2020.12.656. Fulltekst i vitenarkiv
  • Harjama, Liisa; Karvonen, V; Elomaa, O.; Einarsdottir, E; Heikkilä, H & Kivirikko, Sirpa [Vis alle 11 forfattere av denne artikkelen] (2021). Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients. Journal of the European Academy of Dermatology and Venereology. ISSN 0926-9959. doi: 10.1111/jdv.17314.
  • Cotsapas, Chris; Saarela, Janna Saija; Farmer, Jocelyn R.; Scaria, Vinod & Abraham, Roshini S. (2021). Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? Journal of Clinical Investigation. ISSN 0021-9738. doi: 10.1172/JCI149459.
  • Savola, Paula; Martelius, Timi; Kankainen, Matti; Huuhtanen, Jani; Lundgren, Sofie & Koski, Yrjö [Vis alle 16 forfattere av denne artikkelen] (2021). Somatic mutations and T-cell clonality in patients with immunodeficiency. Haematologica. ISSN 0390-6078. doi: 10.3324/haematol.2019.220889. Fulltekst i vitenarkiv
  • Kalinichenko, Artem; Perinetti Casoni, Giovanna; Dupré, Loïc; Trotta, Luca; Huemer, Jakob & Galgano, Donatella [Vis alle 24 forfattere av denne artikkelen] (2021). RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis. Blood. ISSN 0006-4971. 137(15), s. 2033–2045. doi: 10.1182/blood.2020008738.
  • Malani, Disha; Adish Kumar, Kumar; Brück, Oscar; Kontro, Mika; Yadav, Bhagwan & Hellesøy, Monica [Vis alle 27 forfattere av denne artikkelen] (2021). Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia. Cancer Discovery. ISSN 2159-8274. doi: 10.1158/2159-8290.CD-21-0410. Fulltekst i vitenarkiv
  • Hetemäki, Iivo; Kaustio, Meri; Kinnunen, Matias; Heikkilä, Nelli; Keskitalo, Salla & Nowlan, Kirsten [Vis alle 26 forfattere av denne artikkelen] (2021). Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells. Science immunology. ISSN 2470-9468. 6(65). doi: 10.1126/sciimmunol.abe3454.
  • Hannula-Jouppi, Katariina; Harjama, Liisa; Einarsdottir, Elisabet; Elomaa, Outi; Kettunen, Kaisa & Saarela, Janna [Vis alle 14 forfattere av denne artikkelen] (2020). Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation. Journal of American Academy of Dermatology. ISSN 0190-9622. 83(2), s. 643–645. doi: 10.1016/j.jaad.2019.11.004. Fulltekst i vitenarkiv
  • Harjama, Liisa; Kettunen, Kaisa; Elomaa, Outi; Einarsdottir, Elisabet; Heikkilä, Hannele & Kivirikko, Sirpa [Vis alle 13 forfattere av denne artikkelen] (2020). Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma. Acta Dermato-Venereologica. ISSN 0001-5555. 100(4). doi: 10.2340/00015555-3404. Fulltekst i vitenarkiv
  • Hakonen, Anna H; Lehtonen, Johanna; Kivirikko, Sirpa; Keski‐Filppula, Riikka; Moilanen, Jukka & Kivisaari, Reetta [Vis alle 11 forfattere av denne artikkelen] (2020). Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 182(11), s. 2605–2610. doi: 10.1002/ajmg.a.61836.
  • Partanen, Terhi; Chen, Jie; Lehtonen, Johanna; Kuismin, Outi; Rusanen, Harri & Vapalahti, Olli [Vis alle 21 forfattere av denne artikkelen] (2020). Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis. Journal of Clinical Immunology. ISSN 0271-9142. 40(8). doi: 10.1007/s10875-020-00834-2. Fulltekst i vitenarkiv
  • Hautala, Timo; Chen, Jie; Tervonen, Laura; Partanen, Terhi; Winqvist, Satu & Lehtonen, Johanna [Vis alle 17 forfattere av denne artikkelen] (2020). Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation. Neurology: Genetics. ISSN 2376-7839. 6(6). doi: 10.1212/NXG.0000000000000532. Fulltekst i vitenarkiv
  • Tuovinen, Elina A.; Grönholm, Juha; Ohman, Tiina; Pöysti, Sakari; Toivonen, Raine & Kreutzman, Anna [Vis alle 17 forfattere av denne artikkelen] (2020). Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency. Journal of Clinical Immunology. ISSN 0271-9142. 40(3), s. 503–514. doi: 10.1007/s10875-020-00745-2. Fulltekst i vitenarkiv
  • Madireddy, Lohith; Patsopoulos, Nikolaos A.; Cotsapas, Chris; Bos, Steffan Daniel; Beecham, Ashley & McCauley, Jacob [Vis alle 64 forfattere av denne artikkelen] (2019). A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis. Nature Communications. ISSN 2041-1723. 10:2236, s. 1–12. doi: 10.1038/s41467-019-09773-y. Fulltekst i vitenarkiv
  • Saarela, Jan & Skirbekk, Vegard Fykse (2018). Forced migration in childhood and subsequent fertility: The Karelian displaced population in Finland. Population, Space and Place. ISSN 1544-8444. doi: 10.1002/psp.2223.
  • Kontro, Mika; Kumar, Anil; Majumder, Muntasir Mamun; Eldfors, Samuli; Parsons, Alun & Pemovska, Tea [Vis alle 17 forfattere av denne artikkelen] (2017). HOX gene expression predicts response to BCL-2 inhibition in acute myeloid leukemia. Leukemia. ISSN 0887-6924. 31(2), s. 301–309. doi: 10.1038/leu.2016.222.
  • Sundqvist, Emilie; Buck, Dorothea; Warnke, Clemens; Albrecht, Eva; Gieger, Christian & Khademi, Mohsen [Vis alle 41 forfattere av denne artikkelen] (2014). JC Polyomavirus Infection Is Strongly Controlled by Human Leucocyte Antigen Class II Variants. PLoS Pathogens. ISSN 1553-7366. 10(4). doi: 10.1371/journal.ppat.1004084.
  • Mero, Inger-Lise; Lorentzen, Åslaug Rudjord; SMESTAD, CATHRINE; Ban, Maria; Celius, Elisabeth Gulowsen & Aarseth, Jan [Vis alle 22 forfattere av denne artikkelen] (2010). A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis. European Journal of Human Genetics. ISSN 1018-4813. 18(4), s. 502–504. doi: 10.1038/ejhg.2009.195.
  • Jakkula, Eveliina; Leppa, Virpi; Sulonen, Anna-Maija; Varilo, Teppo; Kallio, Suvi & Kemppinen, Anu [Vis alle 29 forfattere av denne artikkelen] (2010). Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene. American Journal of Human Genetics. ISSN 0002-9297. 86(2), s. 285–291. doi: 10.1016/j.ajhg.2010.01.017.
  • Jagodic, Maja; Colacios, Celine; Nohra, Rita; Dejean, Anne S.; Beyeen, Amennai Daniel & Khademi, Mohsen [Vis alle 37 forfattere av denne artikkelen] (2009). A Role for VAV1 in Experimental Autoimmune Encephalomyelitis and Multiple Sclerosis. Science Translational Medicine. ISSN 1946-6234. 1(10). doi: 10.1126/scitranslmed.3000278.
  • Kallio, SP; Jakkula, E; Purcell, S; Suvela, M; Koivisto, K & Tienari, PJ [Vis alle 22 forfattere av denne artikkelen] (2009). Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Human Molecular Genetics. ISSN 0964-6906. 18(9), s. 1670–1683. doi: 10.1093/hmg/ddp073.
  • Kemppinen, Anu; Suvela, M; Tienari, PJ; Elovaara, I; Koivisto, K & Pirttila, T [Vis alle 18 forfattere av denne artikkelen] (2009). MYO9B polymorphisms in multiple sclerosis. European Journal of Human Genetics. ISSN 1018-4813. 17(6), s. 840–843. doi: 10.1038/ejhg.2008.251.
  • Lorentzen, Åslaug R; Smestad, Cathrine; Lie, Benedicte A; Lie, BA; Oturai, Annette & Oturai, AB [Vis alle 18 forfattere av denne artikkelen] (2008). The SH2D2A gene and susceptibility to multiple sclerosis. Journal of Neuroimmunology. ISSN 0165-5728. 197, s. 152–158. doi: 10.1016/j.jneuroim.2008.04.037.
  • Yu, Xinhua; Koczan, Dirk; Sulonen, Anna-Maija; Akkad, Dennis A.; Kroner, Antje & Comabella, Manuel [Vis alle 20 forfattere av denne artikkelen] (2008). mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis. PLOS ONE. ISSN 1932-6203. 3(2), s. 1–7. doi: 10.1371/journal.pone.0001530.
  • Lundmark, F; Duvefelt, K; Iacobaeus, E; Kockum, I; Wallstrom, E & Khademi, M [Vis alle 14 forfattere av denne artikkelen] (2007). Variation in interleukin 7 receptor a chain (IL7R) influences risk of multiple sclerosis. Nature Genetics. ISSN 1061-4036. 39, s. 1108–1113. doi: 10.1038/ng2106.
  • Lundmark, F; Harbo, Hanne Flinstad; Celius, Elisabeth Gulowsen; Saarela, J; Datta, Pameli & Oturai, Anette [Vis alle 10 forfattere av denne artikkelen] (2006). Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations. Journal of Neuroimmunology. ISSN 0165-5728. 180, s. 193–198.

Se alle arbeider i Cristin

  • Sakovich, Inga S.; Haapaniemi, Emma Maria; Aleshkevich, Svetlana N.; Pakhomava, Iryna V.; Belobokova, Victoria D. & Poliakova, Ekaterina A. [Vis alle 15 forfattere av denne artikkelen] (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 [Vis alle 15 forfattere av denne artikkelen] (2023). Copy number variations from exome sequencing of Finnish inborn errors of immunity cohort.
  • Saarela, Janna Saija (2022). Lecture.
  • Saarela, Janna Saija (2022). Key note lecture.
  • Saarela, Janna Saija (2022). From WES/WGS to diagnosis.
  • 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.
  • Lehtonen, Johanna; Almusa, Henrikki; Savarese, Marco & Saarela, Janna Saija (2020). Haplotype and variant phasing of large muscle genes using linked-read sequencing.
  • 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.
  • Madireddy, Lohith; Patsopoulos, Nikolaos A.; Cotsapas, Chris; Bos, Steffan Daniel; Beecham, Ashley H. & McCauley, Jacob [Vis alle 64 forfattere av denne artikkelen] (2019). Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis (Nature Communications, (2019), 10, 1, (2236), 10.1038/s41467-019-09773-y). Nature Communications. ISSN 2041-1723. 10(1). doi: 10.1038/s41467-019-10951-1.
  • Booth, DR; Heard, RN; Stewart, GJ; Cox, M; Scott, RJ & Lechner-Scott, J [Vis alle 42 forfattere av denne artikkelen] (2010). Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nature Genetics. ISSN 1061-4036. 42(6), s. 469–470.
  • Mero, Inger-Lise; Lorentzen, AR; Ban, Maria; SMESTAD, CATHRINE; Celius, Elisabeth Gulowsen & Aarseth, JH [Vis alle 20 forfattere av denne artikkelen] (2009). The TYK2 gene is associated with susceptibility to multiple sclerosis. Multiple Sclerosis. ISSN 1352-4585. 15(9), s. S186–S186.
  • Lorentzen, AR; SMESTAD, CATHRINE; Ekstrøm, Per Olaf; Oturai, Annette Bang; Åkesson, Eva & Saarela, Janna [Vis alle 13 forfattere av denne artikkelen] (2006). The role of SH2D2A gene polymorphisms in multiple sclerosis. Multiple Sclerosis. ISSN 1352-4585. 12(Suppl 1), s. S72–S72.
  • Lorentzen, Åslaug Rudjord; Smestad, C.; Ekstrom, PO; Ekström, Peter; Oturai, AB & Oturai, AB [Vis alle 10 forfattere av denne artikkelen] (2006). The role of SH2D2A gene polymorphisms in development of multiple sclerosis. Tissue Antigens. ISSN 0001-2815. 67(6 - P-179), s. 528–529.

Se alle arbeider i Cristin

Publisert 8. jan. 2019 14:30 - Sist endret 26. juli 2022 14:59

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