A. Blomhoff

发表

Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex

E. Thorsby, B. Lie, A. Cambon-Thomsen, 2009, Genes and Immunity.

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

D. Misceo, K. Ørstavik, T. Iqbal, 2016, Neuromuscular Disorders.

Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.

B. Lie, A. Weetman, D. Undlien, 2004, The Journal of clinical endocrinology and metabolism.

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

D. Gawkrodger, I. Cantón, N. Gavalas, 2005, Genes and Immunity.

CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases.

B. Lie, D. Gawkrodger, E. Husebye, 2005, Pigment cell research.

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

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes

E. Thorsby, B. Lie, A. Cambon-Thomsen, 2006, Genes and Immunity.

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

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

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

T. Egeland, E. Husebye, D. Undlien, 2008, European Journal of Human Genetics.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

D. Misceo, A. Stray-Pedersen, P. Strømme, 2013, Orphanet Journal of Rare Diseases.

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

D. Misceo, P. Strømme, E. Frengen, 2015, American journal of medical genetics. Part A.

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures

M. D. Vigeland, Y. Sheng, K. Selmer, 2017, Human molecular genetics.