Outi Kuismin

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja Kurki, David Curtis et al. · Nature Neuroscience · 2016 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Manfred Fliegauf, Nils Klammer, Natalie Frede et al. · Journal of Allergy and Clinical Immunology · 2020 · 130 citations · Full text

Life Sciences, Genetics, Immunology +13

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Andrea Ganna, Mitja Kurki, Aki S. Havulinna et al. · 2018 · 124 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Mikko Muona, Ryosuke Ishimura, Anni Laari et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Eevi Kaasinen, Outi Kuismin, Kristiina Rajamäki et al. · Nature Communications · 2019 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17