| CRISPR–Cas9 genome editing induces a p53-mediated DNA damage response E Haapaniemi, S Botla, J Persson, B Schmierer, J Taipale Nature medicine 24 (7), 927-930, 2018 | 1119 | 2018 |
| Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease SE Flanagan, E Haapaniemi, MA Russell, R Caswell, HL Allen, ... Nature genetics 46 (8), 812-814, 2014 | 515 | 2014 |
| Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3 EM Haapaniemi, M Kaustio, HLM Rajala, AJ van Adrichem, L Kainulainen, ... Blood, The Journal of the American Society of Hematology 125 (4), 639-648, 2015 | 292 | 2015 |
| Inherited DOCK2 deficiency in patients with early-onset invasive infections K Dobbs, C Domínguez Conde, SY Zhang, S Parolini, M Audry, J Chou, ... New England Journal of Medicine 372 (25), 2409-2422, 2015 | 191 | 2015 |
| Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes M Kaustio, E Haapaniemi, H Göös, T Hautala, G Park, J Syrjänen, ... Journal of Allergy and Clinical Immunology 140 (3), 782-796, 2017 | 125 | 2017 |
| Novel TMEM173 mutation and the role of disease modifying alleles S Keskitalo, E Haapaniemi, E Einarsdottir, K Rajamäki, H Heikkilä, ... Frontiers in immunology 10, 2770, 2019 | 53 | 2019 |
| Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome JW Leiding, TP Vogel, VGJ Santarlas, R Mhaskar, MR Smith, A Carisey, ... Journal of Allergy and Clinical Immunology 151 (4), 1081-1095, 2023 | 45 | 2023 |
| Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections SO Sharapova, E Haapaniemi, IS Sakovich, LV Kostyuchenko, A Donko, ... Clinical Immunology 205, 1-5, 2019 | 30 | 2019 |
| Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction M Kaustio, N Nayebzadeh, R Hinttala, T Tapiainen, P Åström, K Mamia, ... Journal of Allergy and Clinical Immunology 148 (2), 599-611, 2021 | 23 | 2021 |
| Computational analysis of microbial flow cytometry data P Rubbens, R Props MSystems 6 (1), 10.1128/msystems. 00895-20, 2021 | 22 | 2021 |
| Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1 EM Haapaniemi, CL Fogarty, S Keskitalo, S Katayama, H Vihinen, ... Journal of Allergy and Clinical Immunology 139 (4), 1391-1393. e11, 2017 | 21 | 2017 |
| Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease S Keskitalo, EM Haapaniemi, V Glumoff, X Liu, V Lehtinen, C Fogarty, ... NPJ Genomic Medicine 4 (1), 14, 2019 | 17 | 2019 |
| Rapid genome editing by CRISPR-Cas9-POLD3 fusion G Reint, Z Li, K Labun, S Keskitalo, I Soppa, K Mamia, E Tolo, ... Elife 10, e75415, 2021 | 11 | 2021 |
| Reply to “CRISPR screens are feasible in TP53 wild‐type cells” E Haapaniemi, S Botla, J Persson, B Schmierer, J Taipale Molecular Systems Biology 15 (8), e9059, 2019 | 6 | 2019 |
| Novel LRBA mutation and possible germinal mosaicism in a Slavic family SO Sharapova, E Haapaniemi, IS Sakovich, J Rojas, L Gámez-Díaz, ... Journal of Clinical Immunology 38 (4), 471-474, 2018 | 6 | 2018 |
| DOCK2 and a recessive immunodeficiency with early-onset invasive infections K Dobbs, CD Conde, SY Zhang, S Parolini, M Audry, J Chou, ... The New England journal of medicine 372 (25), 2409, 2015 | 4 | 2015 |
| Large granular lymphocyte infiltration in the bone marrow in children and young adults may suggest primary immune deficiency MH Taskinen, S Mustjoki, K Jahnukainen, L Trotta, T Siitonen, T Hautala, ... Blood 126 (23), 1024, 2015 | 3 | 2015 |
| Characterization of novel TMEM173 mutation with additive IFIH1 risk allele S Keskitalo, E Haapaniemi, E Einarsdottir, K Rajamäki, H Heikkilä, ... bioRxiv, 394353, 2018 | 1 | 2018 |
| Inhibition of p53 improves CRISPR/Cas-mediated precision genome editing E Haapaniemi, S Botla, J Persson, B Schmierer, J Taipale bioRxiv, 180943, 2017 | 1 | 2017 |
| Dominant NFKB1 mutations cause antibody deficiency and autoinflammatory episodes EM Haapaniemi, M Kaustio, H Nurkkala, M Helminen, S Mustjoki, ... Blood, The Journal of the American Society of Hematology 126 (23), 206-206, 2015 | 1 | 2015 |
