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Proceedings of the National Academy of Sciences of the United States of America|September 1, 2009
Human genetic deficiencies reveal the roles of complement in the inflammatory network: lessons from natureKnut Tore Lappegård, Dorte Christiansen, Anne Pharo, et al.
The Journal of Clinical Investigation|December 3, 2013
TTC7A mutations disrupt intestinal epithelial apicobasal polarityAmélie E Bigorgne, Henner F Farin, Roxane Lemoine, et al.
Molecular Genetics & Genomic Medicine|November 30, 2016
A potential founder variant in <i>CARMIL2/RLTPR</i> in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunctionHanne S Sorte, Liv T Osnes, Børre Fevang, et al.
Frontiers in Immunology|August 6, 2020
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined ImmunodeficiencyJanne Strand, Kiran Aftab Gul, Hans Christian Erichsen, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
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