Øivind Braaten
- Consultant; MD, PhD
Publications 2019
PEDIA: prioritization of exome data by image analysis
Genet Med, 21 (12), 2807-2814
DOI 10.1038/s41436-019-0566-2, PubMed 31164752
"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
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
Publications 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
Publications 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
Publications 2011
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
DOI 10.4045/tidsskr.09.1499, PubMed 21423311
Publications 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
Publications 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
Publications 2008
Syndrome diagnosis: human intuition or machine intelligence?
Open Med Inform J, 2, 149-59
DOI 10.2174/1874431100802010149, PubMed 19415142
Publications 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
Publications 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
Publications 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
Publications 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 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