Publications 2023

Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E (2023)
A single amino acid deletion in the ER Ca²⁺ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation
Sci Signal, 16 (771), eadd0509
DOI 10.1126/scisignal.add0509, PubMed 36749824

Publications 2022

Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR (2022)
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095

Publications 2020

Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT (2020)
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Hum Mutat, 42 (2), 135-141
DOI 10.1002/humu.24137, PubMed 33169484

Publications 2018

Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
Cell Calcium, 76, 87-100
DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422

Publications 2017

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549

Viken MK, Flåm ST, Skrivarhaug T, Amundsen SS, Sollid LM, Drivvoll AK, Joner G, Dahl-Jørgensen K, Lie BA (2017)
HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease
HLA, 89 (5), 278-284
DOI 10.1111/tan.12986, PubMed 28247576

Publications 2016

Gabrielsen IS, Amundsen SS, Helgeland H, Flåm ST, Hatinoor N, Holm K, Viken MK, Lie BA (2016)
Genetic risk variants for autoimmune diseases that influence gene expression in thymus
Hum Mol Genet, 25 (14), 3117-3124
DOI 10.1093/hmg/ddw152, PubMed 27199374

Gabrielsen IS, Viken MK, Amundsen SS, Helgeland H, Holm K, Flåm ST, Lie BA (2016)
Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus
Genes Immun, 17 (7), 406-411
DOI 10.1038/gene.2016.39, PubMed 27829666

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

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
DOI 10.1186/s12881-015-0260-4, PubMed 26684006

Publications 2014

Amundsen SS, Viken MK, Sollid LM, Lie BA (2014)
Coeliac disease-associated polymorphisms influence thymic gene expression
Genes Immun, 15 (6), 355-60
DOI 10.1038/gene.2014.26, PubMed 24871462

Publications 2011

Nordang GB, Viken MK, Amundsen SS, Sanchez ES, Flatø B, Førre OT, Martin J, Kvien TK, Lie BA (2011)
Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts
Rheumatology (Oxford), 51 (4), 619-26
DOI 10.1093/rheumatology/ker364, PubMed 22179739

Publications 2009

Amundsen SS, Rundberg J, Adamovic S, Gudjónsdóttir AH, Ascher H, Ek J, Nilsson S, Lie BA, Naluai AT, Sollid LM (2009)
Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort
Genes Immun, 11 (1), 79-86
DOI 10.1038/gene.2009.67, PubMed 19693089

Gudjónsdóttir AH, Nilsson S, Naluai AT, Ek J, Amundsen SS, Wahlström J, Ascher H (2009)
Association between genotypes and phenotypes in coeliac disease
J Pediatr Gastroenterol Nutr, 49 (2), 165-9
DOI 10.1097/MPG.0b013e318196c362, PubMed 19543113

Stangeland B, Rosenhave EM, Winge P, Berg A, Amundsen SS, Karabeg M, Mandal A, Bones AM, Grini PE, Aalen RB (2009)
AtMBD8 is involved in control of flowering time in the C24 ecotype of Arabidopsis thaliana
Physiol Plant, 136 (1), 110-26
DOI 10.1111/j.1399-3054.2009.01218.x, PubMed 19374717

Publications 2008

Adamovic S, Amundsen SS, Lie BA, Gudjónsdóttir AH, Ascher H, Ek J, van Heel DA, Nilsson S, Sollid LM, Torinsson Naluai A (2008)
Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families
Genes Immun, 9 (4), 364-7
DOI 10.1038/gene.2008.27, PubMed 18418394

Amundsen SS (2008)
Mapping of non-HLA genes predisposing to celiac disease
In Series of dissertations submitted to the Faculty of Medicine, University of Oslo, Unipub, Oslo, no. 643, 1 b. (flere pag.)
BIBSYS 080981917, ISBN 978-82-8072-748-0

Publications 2007

Adamovic S, Amundsen SS, Lie BA, Hellqvist A, Gudjónsdóttir AH, Ek J, Nilsson S, Wahlström J, Ascher H, Sollid LM, Naluai AT (2007)
Fine mapping study in Scandinavian families suggests association between coeliac disease and haplotypes in chromosome region 5q32
Tissue Antigens, 71 (1), 27-34
DOI 10.1111/j.1399-0039.2007.00955.x, PubMed 17971050

Amundsen SS, Adamovic S, Hellqvist A, Nilsson S, Gudjónsdóttir AH, Ascher H, Ek J, Larsson K, Wahlström J, Lie BA, Sollid LM, Naluai AT (2007)
A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families
Eur J Hum Genet, 15 (9), 980-7
DOI 10.1038/sj.ejhg.5201870, PubMed 17551518

Publications 2006

Amundsen SS, Monsuur AJ, Wapenaar MC, Lie BA, Ek J, Gudjónsdóttir AH, Ascher H, Wijmenga C, Sollid LM (2006)
Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort
Hum Immunol, 67 (4-5), 341-5
DOI 10.1016/j.humimm.2006.03.020, PubMed 16720215

Amundsen SS, Vatn M, IBSEN study group, Wijmenga C, Sollid LM, Lie BA (2006)
Association analysis of MYO9B gene polymorphisms and inflammatory bowel disease in a Norwegian cohort
Tissue Antigens, 68 (3), 249-52
DOI 10.1111/j.1399-0039.2006.00665.x, PubMed 16948647

Bjørnvold M, Amundsen SS, Stene LC, Joner G, Dahl-Jørgensen K, Njølstad PR, Ek J, Ascher H, Gudjònsdòttir AH, Lie BA, Skinningsrud B, Akselsen HE, Rønningen KS, Sollid LM, Undlien DE (2006)
FOXP3 polymorphisms in type 1 diabetes and coeliac disease
J Autoimmun, 27 (2), 140-4
DOI 10.1016/j.jaut.2006.06.007, PubMed 16996248

Publications 2005

Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, Sollid LM, Førre OT, Thorsby E, Smerdel A, Lie BA (2005)
Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases
Genes Immun, 6 (3), 271-3
DOI 10.1038/sj.gene.6364178, PubMed 15759012

Publications 2004

Amundsen SS, Naluai AT, Ascher H, Ek J, Gudjónsdóttir AH, Wahlström J, Lie BA, Sollid LM (2004)
Genetic analysis of the CD28/CTLA4/ICOS (CELIAC3) region in coeliac disease
Tissue Antigens, 64 (5), 593-9
DOI 10.1111/j.1399-0039.2004.00312.x, PubMed 15496203

Publications 2003

Butenko MA, Patterson SE, Grini PE, Stenvik GE, Amundsen SS, Mandal A, Aalen RB (2003)
Inflorescence deficient in abscission controls floral organ abscission in Arabidopsis and identifies a novel family of putative ligands in plants
Plant Cell, 15 (10), 2296-307
DOI 10.1105/tpc.014365, PubMed 12972671

Publications 2002

Amundsen SS (2002)
Identification and characterization of genes involved in desiccation tolerance and stress protection in Arabidopsis thaliana
S.S. Amundsen, Oslo, 82 s.
BIBSYS 021444722