Bjørn Ivar Haukanes

Author

Bjørn Ivar Haukanes

Also Known As

B I Haukanes, B. I. Haukanes, B.I. Haukanes, BJØRN‐IVAR HAUKANES, Bjam-Ivar Haukanes, Bjørn I. Haukanes, Bjørn Ivar HAUKANES, Bjørn Ivar Haukanes, Bjørn-Ivar Haukanes, Bjørn‐Ivar HAUKANES

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

University of Bergen Haukeland University Hospital Radboud University Medical Center Radboud University Nijmegen Oslo University Hospital

About

Bjørn Ivar Haukanes is an author at University of Bergen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	559
2	Natural Sciences	3	3	123
3	Health Sciences	2	2	80
4	Public Health	1	1	13
5	Social Sciences	1	1	48

Bjørn Ivar Haukanes

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson, The American Journal of Human Genetics Cannabis UseNeurodegenerative DiseasesNeurodegenerative Disease PharcGenetic DisorderGenetics	2010	232
Familial Diarrhea Syndrome Caused by an Activating <i>GUCY2C</i> Mutation Torunn Fiskerstrand, Najla Arshad, Bjørn Ivar Haukanes, New England Journal of Medicine	2012	207
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Orphanet Journal of Rare Diseases	2013	180
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, European Journal of Human Genetics	2017	98
Current clinical criteria for Lynch syndrome are not sensitive enough to identify <i>MSH6</i> mutation carriers Wenche Sjursen, Bjørn Ivar Haukanes, Eli Marie Grindedal, Journal of Medical Genetics	2010	97
Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population‐based sample of infants with cleft palate Åse Sivertsen, Rolv T. Lie, Allen J. Wilcox, American Journal of Medical Genetics Part A	2006	74
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study Hildegunn Høberg‐Vetti, Cathrine Bjorvatn, Bent Fiane, European Journal of Human Genetics	2015	73
STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Ketil Heimdal, Mònica Sánchez-Guixé, Ingvild Aukrust, Orphanet Journal of Rare Diseases	2014	70
CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration Tilo Wolf Eichler, Cecilie Totland, Mette Haugen, PLoS ONE	2013	55
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases Jennifer Kerkhof, Cassandra Rastin, Michael A. Levy, Genetics in Medicine Genetic TestingDiagnostic UtilityMedicineGeneticsDna Methylation	2024	55

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