Get started
Author

Øyvind L. Busk

Observed names: Busk, Øyvind L, Busk, Øyvind L., Busk, Øyvind Løvold, Oyvind L. Busk, Ø. L. Busk, Ø.L. Busk, Øyvind Busk, Øyvind L Busk, Øyvind Løvold Busk
ORCID: 0000-0002-6960-2304
Observed ORCID: 0000-0002-6960-2304
OpenAlex ID: A5064610336
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
2017 · Sébastien Küry, Geeske M. van Woerden, et al. · The American Journal of Human Genetics · 183
PDF
Next-generation sequencing of the monogenic obesity genes LEP , LEPR , MC4R , PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls
2017 · Gry B.N. Nordang, Øyvind L. Busk, et al. · Molecular Genetics and Metabolism · 67
PDF
Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
2014 · Helle Høyer, Geir J. Braathen, et al. · BioMed Research International · 67
PDF
Identification of surface proteins in Enterococcus faecalis V583
2011 · Liv Anette Bøhle, Tahira Riaz, et al. · BMC Genomics · 67
PDF
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2020 · Hannah Stamberger, Trine B. Hammer, et al. · Genetics in Medicine · 57
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
2019 · Benjamin Cogné, Sophie Ehresmann, et al. · The American Journal of Human Genetics · 53
PDF
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
2019 · Marija Dulovic-Mahlow, Joanne Trinh, et al. · The American Journal of Human Genetics · 49
PDF
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
2017 · Kelly Schoch, Linyan Meng, et al. · The American Journal of Human Genetics · 48
PDF
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 · Ilaria Mannucci, Nghi D. P. Dang, et al. · Genome Medicine · 35
PDF
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction
2014 · Øystein Holla, Gunter Bock, et al. · Endoscopy · 35
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024 · Angela Peron, Felice D’Arco, et al. · European Journal of Human Genetics · 23
PDF
Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study
2022 · Cathrine Goberg Olsen, Øyvind Løvold Busk, et al. · Neuroepidemiology · 22
PDF
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
2023 · Sarah E. Sheppard, Laura Bryant, et al. · Science Advances · 17
Relative quantification of the proteomic changes associated with the mycotoxin zearalenone in the H295R steroidogenesis model
2011 · Øyvind L. Busk, Doreen Ndossi, et al. · Toxicon · 17
Cytosol protein regulation in H295R steroidogenesis model induced by the zearalenone metabolites, α- and β-zearalenol
2011 · Øyvind L. Busk, Caroline Frizzell, et al. · Toxicon · 16
Variants in the genes DCTN 2, DNAH 10, LRIG 3,and MYO 1Aare associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family
2015 · G. J. Braathen, H. Høyer, et al. · Acta Neurologica Scandinavica · 15
PDF
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
2021 · Charlotte von der Lippe, Kristian Tveten, et al. · American Journal of Medical Genetics Part A · 14
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders
2023 · Cathrine Goberg Olsen, Øyvind Løvold Busk, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 13
PDF
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation
2018 · Charlotte Gibbs, Jacob Thalamus, et al. · Journal of the American Heart Association · 11
PDF
Repeat expansions in AR , ATXN1 , ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis
2024 · Camilla Novy, Øyvind L Busk, et al. · Brain Communications · 8
PDF
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
2022 · Helle Høyer, Øyvind L. Busk, et al. · BMC Neurology · 8
PDF
Clinical exome sequencing – Norwegian findings
2015 · Øystein L. Holla, Øyvind L. Busk, et al. · Tidsskrift for Den norske legeforening · 8
PDF
Hereditary peripheral neuropathies diagnosed by next-generation sequencing
2015 · Helle Høyer, Øyvind L. Busk, et al. · Tidsskrift for Den norske legeforening · 7
PDF
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
2024 · Scott Barish, Sheng-Jia Lin, et al. · The American Journal of Human Genetics · 5
Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”
2015 · Helle Høyer, Geir J. Braathen, et al. · BioMed Research International · 3
PDF
Works count: 69
Citation count: 850
H-index: 15
I10-index: 19
Year
Topic
Type