Publications 2020

Kildahl AN, Berg LK, Nilssen ALE, Bjorgo K, Rodningen O, Helverschou SB (2020)
Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)
J. Intellect. Dev. Dis., 45 (1), 54-58
DOI 10.3109/13668250.2018.1440135

Publications 2018

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
Homocarnosinosis: A historical update and findings in the SPG11 gene
Acta Neurol Scand, 138 (3), 245-250
DOI 10.1111/ane.12949, PubMed 29732542

Publications 2017

Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH (2017)
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
J Med Case Rep, 11 (1), 226
DOI 10.1186/s13256-017-1402-4, PubMed 28814329

Publications 2016

Samarakoon PS, Sorte HS, Stray-Pedersen A, Rødningen OK, Rognes T, Lyle R (2016)
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
BMC Genomics, 17, 51
DOI 10.1186/s12864-016-2374-2, PubMed 26764020

Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878

Publications 2015

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (7), e0131637
DOI 10.1371/journal.pone.0131637, PubMed 26154504

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (8), e0136011
DOI 10.1371/journal.pone.0136011, PubMed 26270546

Publications 2014

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S (2014)
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Am J Med Genet A, 164A (5), 1277-83
DOI 10.1002/ajmg.a.36439, PubMed 24664804

Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A (2014)
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, 178 (3), 459-69
DOI 10.1111/cei.12421, PubMed 25046553

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
Eur J Med Genet, 57 (9), 513-9
DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G (2014)
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
Am J Med Genet A, 164A (7), 1622-6
DOI 10.1002/ajmg.a.36498, PubMed 24678003

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
Identification of copy number variants from exome sequence data
BMC Genomics, 15 (1), 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA (2014)
Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
Mol Syndromol, 5 (2), 65-75
DOI 10.1159/000357962, PubMed 24715853

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

Edvardsen H, Landmark-Høyvik H, Reinertsen KV, Zhao X, Grenaker-Alnæs GI, Nebdal D, Syvänen AC, Rødningen O, Alsner J, Overgaard J, Borresen-Dale AL, Fosså SD, Kristensen VN (2013)
SNP in TXNRD2 associated with radiation-induced fibrosis: a study of genetic variation in reactive oxygen species metabolism and signaling
Int J Radiat Oncol Biol Phys, 86 (4), 791-9
DOI 10.1016/j.ijrobp.2013.02.025, PubMed 23597419

Lund C, Brodtkorb E, Røsby O, Rødningen OK, Selmer KK (2013)
Copy number variants in adult patients with Lennox-Gastaut syndrome features
Epilepsy Res, 105 (1-2), 110-7
DOI 10.1016/j.eplepsyres.2013.01.009, PubMed 23415449

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N et al. (2013)
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Hum Genet, 133 (5), 625-38
DOI 10.1007/s00439-013-1403-3, PubMed 24326587

Sorte HS, Gjevik E, Sponheim E, Eiklid KL, Rødningen OK (2013)
Copy number variation findings among 50 children and adolescents with autism spectrum disorder
Psychiatr Genet, 23 (2), 61-9
DOI 10.1097/YPG.0b013e32835d718b, PubMed 23277134

Wangensteen T, Retterstøl L, Rødningen OK, Hjelmesaeth J, Aukrust P, Halvorsen B (2013)
De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability
Am J Med Genet A, 161A (6), 1480-6
DOI 10.1002/ajmg.a.35927, PubMed 23637016

Publications 2012

Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
Eur J Med Genet, 55 (12), 715-8
DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853

Publications 2011

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662

Publications 2010

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G (2010)
[Determination of chromosome aberrations with the help of DNA arrays]
Tidsskr Nor Laegeforen, 130 (9), 944-7
DOI 10.4045/tidsskr.10.0101, PubMed 20453958

von der Lippe C, Rustad C, Heimdal K, Rødningen OK (2010)
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
Eur J Med Genet, 54 (3), 357-60
DOI 10.1016/j.ejmg.2010.12.008, PubMed 21187176

Publications 2009

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009)
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379

Publications 2008

Nakken KE, Labori KJ, Rødningen OK, Nakken S, Berge KE, Eiklid K, Raeder MG (2008)
ABCB4 sequence variations in young adults with cholesterol gallstone disease
Liver Int, 29 (5), 743-7
DOI 10.1111/j.1478-3231.2008.01914.x, PubMed 19018976

Rødningen OK, Prescott T, Eriksson AS, Røsby O (2008)
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
Eur J Med Genet, 51 (6), 646-50
DOI 10.1016/j.ejmg.2008.07.007, PubMed 18725332

Publications 2007

Alsner J, Rødningen OK, Overgaard J (2007)
Differential gene expression before and after ionizing radiation of subcutaneous fibroblasts identifies breast cancer patients resistant to radiation-induced fibrosis
Radiother Oncol, 83 (3), 261-6
DOI 10.1016/j.radonc.2007.05.001, PubMed 17512072

Landmark H, Nahas SA, Aarøe J, Gatti R, Børresen-Dale AL, Rødningen OK (2007)
Transcriptional response to ionizing radiation in human radiation sensitive cell lines
Radiother Oncol, 83 (3), 256-60
DOI 10.1016/j.radonc.2007.04.017, PubMed 17512073

Riise R, Ygge J, Lindman C, Stray-Pedersen A, Bek T, Rødningen OK, Heiberg A (2007)
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
Acta Ophthalmol Scand, 85 (5), 557-62
DOI 10.1111/j.1600-0420.2007.00890.x, PubMed 17376192

Rødningen OK, Børresen-Dale AL, Alsner J, Hastie T, Overgaard J (2007)
Radiation-induced gene expression in human subcutaneous fibroblasts is predictive of radiation-induced fibrosis
Radiother Oncol, 86 (3), 314-20
DOI 10.1016/j.radonc.2007.09.013, PubMed 17963910

Publications 2005

Rødningen OK, Overgaard J, Alsner J, Hastie T, Børresen-Dale AL (2005)
Microarray analysis of the transcriptional response to single or multiple doses of ionizing radiation in human subcutaneous fibroblasts
Radiother Oncol, 77 (3), 231-40
DOI 10.1016/j.radonc.2005.09.020, PubMed 16297999

Publications 2000

Braaten O, Rødningen OK, Nordal I, Leren TP (2000)
The genetic algorithm applied to haplotype data at the LDL receptor locus
Comput Methods Programs Biomed, 61 (1), 1-9
DOI 10.1016/s0169-2607(99)00025-5, PubMed 10660265

Publications 1999

Rødningen OK, Tonstad S, Medh JD, Chappell DA, Ose L, Leren TP (1999)
Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene
J Lipid Res, 40 (2), 213-20
PubMed 9925649

Rødningen OK, Tonstad S, Saugstad OD, Ose L, Leren TP (1999)
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity
Hum Mutat, 13 (3), 186-96
DOI 10.1002/(SICI)1098-1004(1999)13:3<186::AID-HUMU2>3.0.CO;2-K, PubMed 10090473

Publications 1998

Rødningen OK (1998)
Molecular genetics of familial hypercholesterolemia
Department of Biochemistry, University of Oslo, Oslo, 1 b. (flere pag.)
BIBSYS 990070697, ISBN 82-994939-0-0

Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP (1998)
Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA
Hum Mutat, 12 (2), 95-102
DOI 10.1002/(SICI)1098-1004(1998)12:2<95::AID-HUMU4>3.0.CO;2-E, PubMed 9671270

Publications 1997

Leren TP, Bakken KS, Rødningen OK, Gundersen KE, Sundvold H, Berg K, Tonstad S, Ose L (1997)
[Application of gene technology in the diagnosis of familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 117 (5), 678-81
PubMed 9102960

Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rødningen OK, Sundvold H, Ose L, Berg K (1997)
Molecular genetics of familial hypercholesterolaemia in Norway
J Intern Med, 241 (3), 185-94
DOI 10.1046/j.1365-2796.1997.78119000.x, PubMed 9104431

Publications 1996

Gundersen KE, Solberg K, Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP (1996)
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia
Clin Genet, 49 (2), 85-7
DOI 10.1111/j.1399-0004.1996.tb04333.x, PubMed 8740918

Rødningen OK, Leren TP (1996)
Application of long polymerase chain reaction in the study of the LDL receptor gene
Scand J Clin Lab Invest, 56 (1), 93-6
DOI 10.1080/00365519609088593, PubMed 8850178

Sundvold H, Solberg K, Tonstad S, Rødningen OK, Ose L, Berg K, Leren TP (1996)
A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects
Hum Mutat, 7 (1), 70-1
DOI 10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.0.CO;2-P, PubMed 8664907

Publications 1995

Leren TP, Rødningen OK, Tonstad S, Røsby O, Urdal P, Ose L (1995)
Identification of the apo B-3500 mutation in the Norwegian population
Scand J Clin Lab Invest, 55 (3), 217-21
DOI 10.3109/00365519509089616, PubMed 7638555

Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L (1995)
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia
Hum Genet, 96 (2), 241-2
DOI 10.1007/BF00207391, PubMed 7635482

Leren TP, Sundvold H, Rødningen OK, Tonstad S, Solberg K, Ose L, Berg K (1995)
Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia
Hum Genet, 95 (6), 671-6
DOI 10.1007/BF00209485, PubMed 7789953

Publications 1994

Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L (1994)
Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects
Atherosclerosis, 111 (2), 175-82
DOI 10.1016/0021-9150(94)90091-4, PubMed 7718019

Solberg K, Rødningen OK, Tonstad S, Ose L, Leren TP (1994)
Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene
Scand J Clin Lab Invest, 54 (8), 605-9
DOI 10.3109/00365519409087539, PubMed 7709162

Publications 1993

Leren TP, Rødningen OK, Røsby O, Solberg K, Berg K (1993)
Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads
Biotechniques, 14 (4), 618-23
PubMed 8476605

Leren TP, Solberg K, Rødningen OK, Ose L, Tonstad S, Berg K (1993)
Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene
PCR Methods Appl, 3 (3), 159-62
DOI 10.1101/gr.3.3.159, PubMed 8118396

Leren TP, Solberg K, Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K (1993)
Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop
Hum Genet, 92 (1), 6-10
DOI 10.1007/BF00216137, PubMed 8103503

Rødningen OK (1993)
Kartlegging av molekylærgenetisk årsak til familiær hyperkolesterolemi
[O. K. Rødningen], Oslo, 1 b. (flere pag.)
BIBSYS 931117844

Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K (1993)
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects
Clin Genet, 44 (4), 214-20
DOI 10.1111/j.1399-0004.1993.tb03883.x, PubMed 7903228

Solberg K, Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP (1993)
Short report on DNA marker at candidate locus
Clin Genet, 44 (2), 111
PubMed 8275559

Publications 1992

Leren TP, Solberg K, Røsby O, Rødningen OK, Tonstad S, Ose L, Berg K (1992)
A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects
Clin Genet, 42 (5), 224-8
DOI 10.1111/j.1399-0004.1992.tb03245.x, PubMed 1486698

Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP (1992)
A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects
Clin Genet, 42 (6), 288-95
DOI 10.1111/j.1399-0004.1992.tb03258.x, PubMed 1362925