Per M. Knappskog

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Bergithe E Oftedal, Alexander Hellesen, Martina M. Erichsen et al. · Immunity · 2015 · 283 citations

Life Sciences, Genetics, Immunology +14

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson et al. · The American Journal of Human Genetics · 2010 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene

Anette S. B. Wolff, Martina M. Erichsen, Anthony Meager et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 217 citations

Life Sciences, Endocrinology, Genetics +17

Familial Diarrhea Syndrome Caused by an Activating <i>GUCY2C</i> Mutation

Torunn Fiskerstrand, Najla Arshad, Bjørn Ivar Haukanes et al. · New England Journal of Medicine · 2012 · 208 citations

Life Sciences, Genetics, Molecular Genetics +15