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Publications by Øivind Braaten

14 publications found

Original articles

Johannessen M, Haugen IB, Bakken TL, Braaten Ø (2019)
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
BMJ Case Rep, 12 (11)
DOI 10.1136/bcr-2018-228258, PubMed 31678916

Jahic A, Günther S, Muschol N, Fossøy Stadheim B, Braaten Ø, Kjensli Hyldebrandt H, Kuiper GA, Tylee K, Wijburg FA, Beetz C (2019)
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Mol Genet Genomic Med, 7 (9), e00615
DOI 10.1002/mgg3.615, PubMed 31319022

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N et al. (2019)
PEDIA: prioritization of exome data by image analysis
Genet Med, 21 (12), 2807-2814
DOI 10.1038/s41436-019-0566-2, PubMed 31164752

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
DOI 10.1002/ajmg.a.35823, PubMed 23463539

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Gene, 507 (1), 85-91
DOI 10.1016/j.gene.2012.07.021, PubMed 22842548

Holmøy T, Braaten Ø, Hovden IA, Tallaksen CM (2011)
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
DOI 10.4045/tidsskr.09.1499, PubMed 21423311

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277

Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE (2009)
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
Acta Ophthalmol, 88 (3), 323-8
DOI 10.1111/j.1755-3768.2008.01465.x, PubMed 19183411

Braaten O, Friestad J (2008)
Syndrome diagnosis: human intuition or machine intelligence?
Open Med Inform J, 2, 149-59
DOI 10.2174/1874431100802010149, PubMed 19415142

Djurovic S, Berge KE, Birkenes B, Braaten Ø, Retterstøl L (2007)
The effect of red wine on plasma leptin levels and vasoactive factors from adipose tissue: a randomized crossover trial
Alcohol Alcohol, 42 (6), 525-8
DOI 10.1093/alcalc/agm056, PubMed 17670801

Retterstol L, Berge KE, Braaten Ø, Eikvar L, Pedersen TR, Sandvik L (2005)
A daily glass of red wine: does it affect markers of inflammation?
Alcohol Alcohol, 40 (2), 102-5
DOI 10.1093/alcalc/agh132, PubMed 15642722

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

Braaten O (1996)
Artificial intelligence in pediatrics: important clinical signs in newborn syndromes
Comput Biomed Res, 29 (3), 153-61
DOI 10.1006/cbmr.1996.0013, PubMed 8812067

Review articles

Fagerlund TH, Braaten O (2001)
No pain relief from codeine...? An introduction to pharmacogenomics
Acta Anaesthesiol Scand, 45 (2), 140-9
DOI 10.1034/j.1399-6576.2001.450203.x, PubMed 11167158