Anne Blomhoff

A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo

Irene Cantón, S. Akhtar, N. Gavalas et al. · Genes and Immunity · 2005 · 133 citations

Autoimmune Disease, Disease Mechanism, Immunodeficiencies +12

Polymorphisms in the Cytotoxic T Lymphocyte Antigen-4 Gene Region Confer Susceptibility to Addison’s Disease

Anne Blomhoff, Benedicte A. Lie, Anne Grethe Myhre et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 117 citations · Full text

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 105 citations · Full text

Pathogenic Kat6a Variants, Kat6a Syndrome, Genetics +6

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease

Beate Skinningsrud, Eystein S. Husebye, Kristina Gervin et al. · European Journal of Human Genetics · 2008 · 94 citations · Full text

Adrenal Gland, Autoimmune Disease, Disease Mechanism +9

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13