Outi Kuismin

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

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer et al. · Journal of Allergy and Clinical Immunology · 2020 · 120 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +11

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 · 112 citations · Full text

Biallelic Variants, Genetics, Neuroscience +3

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

Eevi Kaasinen, Outi Kuismin, Kristiina Rajamäki et al. · Nature Communications · 2019 · 92 citations · Full text

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D.M. Peña, Katherine Kim et al. · The American Journal of Human Genetics · 2016 · 86 citations · Full text

Allelic Variant, Systems Biology, Somatic Variant +8

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 67 citations · Full text