Cecilie F. Rustad

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte et al. · The American Journal of Human Genetics · 2014 · 176 citations · Full text

Mendelian Disorder, Autoimmune Disease, Pgm3 Mutations Cause +13

Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

Miriam J. Smith, B. Isidor, Christian Beetz et al. · Neurology · 2014 · 121 citations · Full text

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Miriam J. Smith, Andrew J. Wallace, Naomi L. Bowers et al. · Neurogenetics · 2012 · 118 citations

Mendelian Disorder, Genetic Disorder, Medicine +7

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara‐Kautto et al. · HemaSphere · 2019 · 92 citations · Full text

Myeloid Neoplasms, Mixed-phenotype Acute Leukemia, Germline Predisposition +18