Identification of novel genes, improved diagnosis and targeted treatment in patients with severe genetic disorders
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Mol Genet Genomic Med 2016 Nov;4(6):604-616. Epub 2016 sep 17
PMID: 27896283 - Inngår i doktorgradsavhandlingen
Identification of copy number variants from exome sequence data.
BMC Genomics 2014;15():661. Epub 2014 aug 7
PMID: 25102989 - Inngår i doktorgradsavhandlingen
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
J Clin Immunol 2014 Oct;34(7):871-90. Epub 2014 jul 30
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Clin Exp Immunol 2014 Dec;178(3):459-69.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet 2014 Jul 3;95(1):96-107. Epub 2014 jun 12