Anne Blomhoff

  • Head of Section for Clinical Genetics; MD, PhD
 

Publications 2021

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL et al. (2021)
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med, 23 (6), 1028-1040
DOI 10.1038/s41436-021-01114-z, PubMed 33658631

Sørensen IW, Glad R, Houge G, Blomhoff A, Haug MG, Steen VM (2021)
Mer treffsikker fosterdiagnostikk
Tidsskr Nor Laegeforen, 141 (2021-14)
DOI 10.4045/tidsskr.21.0424, PubMed 34641655

Publications 2020

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2020)
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 22 (11), 1920
DOI 10.1038/s41436-020-00944-7, PubMed 32814847

Publications 2018

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2018)
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 21 (4), 850-860
DOI 10.1038/s41436-018-0259-2, PubMed 30245513

Publications 2017

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391

Publications 2016

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922

Publications 2015

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420

Publications 2013

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540

Publications 2009

Viken MK, Blomhoff A, Olsson M, Akselsen HE, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE, Lie BA (2009)
Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex
Genes Immun, 10 (4), 323-33
DOI 10.1038/gene.2009.13, PubMed 19295542

Publications 2008

Skinningsrud B, Husebye ES, Gervin K, Løvås K, Blomhoff A, Wolff AB, Kemp EH, Egeland T, Undlien DE (2008)
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
Eur J Hum Genet, 16 (8), 977-82
DOI 10.1038/ejhg.2008.33, PubMed 18301444

Publications 2006

Blomhoff A, Olsson M, Johansson S, Akselsen HE, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE, Lie BA (2006)
Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes
Genes Immun, 7 (2), 130-40
DOI 10.1038/sj.gene.6364272, PubMed 16395395

Publications 2005

Blomhoff A, Kemp EH, Gawkrodger DJ, Weetman AP, Husebye ES, Akselsen HE, Lie BA, Undlien DE (2005)
CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases
Pigment Cell Res, 18 (1), 55-8
DOI 10.1111/j.1600-0749.2004.00196.x, PubMed 15649153

Cantón I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, Weetman AP, Kemp EH (2005)
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo
Genes Immun, 6 (7), 584-7
DOI 10.1038/sj.gene.6364243, PubMed 16015369

Publications 2004

Blomhoff A, Lie BA, Myhre AG, Kemp EH, Weetman AP, Akselsen HE, Huseby ES, Undlien DE (2004)
Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease
J Clin Endocrinol Metab, 89 (7), 3474-6
DOI 10.1210/jc.2003-031854, PubMed 15240634

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