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Bjørn Ivar Haukanes

Observed names: B I Haukanes, B. I. Haukanes, B.I. Haukanes, BJØRN‐IVAR HAUKANES, Bjørn I. Haukanes, Bjørn Ivar HAUKANES, Bjørn-Ivar Haukanes, Bjørn‐Ivar HAUKANES, Haukanes, B.I.
ORCID: 0000-0003-1559-3366
Observed ORCID: 0000-0003-1559-3366
OpenAlex ID: A5059646281
Application of Magnetic Beads in Bioassays
1993 · Bjørn-Ivar Haukanes, Catrine Kvam · Nature Biotechnology · 265
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
2010 · Torunn Fiskerstrand, Dorra H'mida-Ben Brahim, et al. · The American Journal of Human Genetics · 240
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Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation
2012 · Torunn Fiskerstrand, Najla Arshad, et al. · New England Journal of Medicine · 207
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
2013 · Kristoffer Haugarvoll, Stefan Johansson, et al. · Orphanet Journal of Rare Diseases · 180
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
2017 · Stéphanie Moortgat, Siren Berland, et al. · European Journal of Human Genetics · 105
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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
2010 · Wenche Sjursen, Bjørn Ivar Haukanes, et al. · Journal of Medical Genetics · 98
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
2024 · Jennifer Kerkhof, Cassandra Rastin, et al. · Genetics in Medicine · 79
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Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population‐based sample of infants with cleft palate
2006 · Åse Sivertsen, Rolv Terje Lie, et al. · American Journal of Medical Genetics Part A · 75
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study
2015 · Hildegunn Høberg-Vetti, Cathrine Bjorvatn, et al. · European Journal of Human Genetics · 74
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STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
2014 · Ketil Heimdal, Monica Sanchez-Guixé, et al. · Orphanet Journal of Rare Diseases · 71
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DLG4-related synaptopathy: a new rare brain disorder
2021 · Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, et al. · Genetics in Medicine · 60
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CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration
2013 · Tilo W. Eichler, Cecilie Totland, et al. · PLoS ONE · 57
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Applications of magnetic beads with covalently attached oligonucleotides in hybridization: Isolation and detection of specific measles virus mRNA from a crude cell lysate
1990 · Catrine Albretsen, Karl-Henning Kalland, et al. · Analytical Biochemistry · 54
Optimal conditions for hybridization with oligonucleotides: A study with myc-oncogene DNA probes
1988 · Catrine Albretsen, Bjørn-Ivar Haukanes, et al. · Analytical Biochemistry · 49
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
2017 · Thandiswa Ngcungcu, Martin Oti, et al. · The American Journal of Human Genetics · 42
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Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
2014 · Stefan Johansson, Siren Berland, et al. · American Journal of Medical Genetics Part A · 41
Comparative study of colony hybridization with synthetic oligonucleotide probes and enzyme-linked immunosorbent assay for identification of enterotoxigenic Escherichia coli
1988 · H Sommerfelt, A M Svennerholm, et al. · Journal of Clinical Microbiology · 38
CDR2 antigen and Yo antibodies
2010 · Cecilie Totland, Nina K. Aarskog, et al. · Cancer Immunology Immunotherapy · 35
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Properties and Mechanism of Action of Eukaryotic 3-Methyladenine-DNA Glycosylases
1987 · D. E. Helland, R. Male, et al. · Journal of Cell Science · 25
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies
2017 · Kristoffer Haugarvoll, Stefan Johansson, et al. · PLoS ONE · 23
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Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
2013 · Charalampos Tzoulis, Stefan Johansson, et al. · PLoS ONE · 22
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Substrate specificity of 3‐methyladenine‐DNA glycosylase from calf thymus
1987 · Rune MALE, Bjørn Ivar HAUKANES, et al. · European Journal of Biochemistry · 21
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A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy
2016 · Espen Lien, Anne Karine Våtevik, et al. · Annals of Neurology · 16
Comparison of the ABC and ACMG systems for variant classification
2024 · Gunnar Houge, Eirik Bratland, et al. · European Journal of Human Genetics · 15
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LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
2022 · Helle Lybæk, Michael Robson, et al. · Autism Research · 14
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Works count: 50
Citation count: 2,032
H-index: 21
I10-index: 29
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