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| 37533579 | Relevance of Coding Variation in And in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis. | | 2023 |
| 36356849 | Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. | Clin Immunol | 2023 |
| 36892687 | Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis. | | 2023 |
| 37256629 | Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement. | JAMA Netw Open | 2023 |
| 34789538 | Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia. | Cancer Discov | 2022 |
| 35963264 | Genetics of multiple sclerosis: lessons from polygenicity. | Lancet Neurology, The | 2022 |
| 35499644 | Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. | J Clin Immunol | 2022 |
| 34826260 | Loss-of-function mutation in leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells. | Science immunology | 2021 |
| 31977656 | A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment. | Journal of Clinical Rheumatology | 2021 |
| 34061775 | Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? | Journal of Clinical Investigation | 2021 |
| 33513601 | RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis. | Blood | 2021 |
| 33662367 | Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction. | Journal of Allergy and Clinical Immunology | 2021 |
| 34324127 | Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. | J Clin Immunol | 2021 |
| 33914963 | Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients. | J Eur Acad Dermatol Venereol | 2021 |
| 32902138 | 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 | 2020 |
| 32072341 | Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency. | J Clin Immunol | 2020 |
| 31944258 | Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma. | Acta Derm Venereol | 2020 |
| 31706940 | Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation. | J Am Acad Dermatol | 2020 |
| 32936395 | Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis. | Journal of Clinical Immunology | 2020 |
| 33256375 | Somatic mutations and T-cell clonality in patients with immunodeficiency. | Haematologica | 2020 |
| 33294619 | Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation. | Neurology: Genetics | 2020 |
| 31059209 | SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. | American Journal of Medical Genetics, Part A | 2019 |
| 31866997 | Novel TMEM173 Mutation and the Role of Disease Modifying Alleles. | Front Immunol | 2019 |
| 31077135 | A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature. | BMC Infectious Diseases | 2019 |
| 29632341 | Germline alterations in a consecutive series of acute myeloid leukemia. | Leukemia | 2018 |
| 30402268 | Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation. | RMD Open | 2018 |
| 30115091 | Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders. | Orphanet Journal of Rare Diseases | 2018 |
| 30567305 | Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients. | Biomedicines | 2018 |
| 29391253 | ADA2 deficiency: Clonal lymphoproliferation in a subset of patients. | Journal of Allergy and Clinical Immunology | 2018 |
| 28115215 | Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes. | J Allergy Clin Immunol | 2017 |
| 28635960 | Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis. | Nature Communications | 2017 |
| 28974505 | Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. | Blood | 2017 |
| 29033928 | Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland. | Front Immunol | 2017 |
| 29205997 | Who would benefit from exome sequencing? | Duodecim; laaketieteellinen aikakauskirja | 2017 |
| 27721464 | Erratum: Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis. | Nat Commun | 2016 |
| 27142677 | Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. | European Journal of Human Genetics | 2016 |
| 26861442 | Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up. | Clinical Immunology | 2016 |
| 26577236 | Association study of MMP8 gene in osteoarthritis. | Connective Tissue Research | 2016 |
| 26343388 | Class II HLA interactions modulate genetic risk for multiple sclerosis. | Nat Genet | 2015 |
| 25622599 | Pharmacogenomics of hypertension: a genomeâ¿wide, placeboâ¿controlled crossâ¿over study, using four classes of antihypertensive drugs. | J Am Heart Assoc | 2015 |
| 25349174 | Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. | Blood | 2015 |
| 25349169 | Genetic background of extreme violent behavior. | Mol Psychiatry | 2015 |
| 26131734 | Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa. | JAMA Dermatology | 2015 |
| 26083206 | Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. | N Engl J Med | 2015 |
| 26254816 | Stimulating translational research: several European life science institutions put their heads together. | Trends Mol Med | 2015 |
| 25080502 | Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. | Hum Mol Genet | 2014 |
| 25928284 | Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result. | BMC Medical Genetics | 2014 |
| 23603763 | Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. | Nat Genet | 2013 |
| 24076602 | Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. | Nat Genet | 2013 |
| 23753411 | Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide. | Hypertension | 2013 |