Ø. Busk

发表

Cytosol protein regulation in H295R steroidogenesis model induced by the zearalenone metabolites, α- and β-zearalenol.

E. Ropstad, C. Frizzell, L. Connolly, 2012, Toxicon : official journal of the International Society on Toxinology.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

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.

J. Hjelmesæth, A. Fell, J. Hertel, 2017, Molecular genetics and metabolism.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Relative quantification of the proteomic changes associated with the mycotoxin zearalenone in the H295R steroidogenesis model.

E. Ropstad, L. Connolly, G. Eriksen, 2011, Toxicon : official journal of the International Society on Toxinology.

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

T. Nyman, H. Nilsen, G. Braathen, 2022, BMC Neurology.

Variants in the genes DCTN2,DNAH10,LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family

M. Russell, G. Braathen, H. Høyer, 2015, Acta neurologica Scandinavica.

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

M. Russell, L. Strand, G. Braathen, 2014, BioMed research international.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

J. Hoenicka, J. Baptista, A. Fry, 2021, American journal of medical genetics. Part A.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Clinical exome sequencing – Norwegian findings.

L. Strand, G. Braathen, H. Høyer, 2015, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

B. Isfoss, Ø. Busk, Ø. Holla, 2014, Endoscopy.

Identification of surface proteins in Enterococcus faecalis V583

G. Mathiesen, V. Eijsink, Liv Anette Bøhle, 2011, BMC Genomics.

Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation

K. Haugaa, C. Gibbs, J. Hysing, 2018, Journal of the American Heart Association.

Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study

T. Holmøy, O. Tysnes, T. Rekand, 2022, Neuroepidemiology.

Hereditary peripheral neuropathies diagnosed by next-generation sequencing.

M. Russell, L. Strand, G. Braathen, 2015, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, American journal of human genetics.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Changes in the proteome of the H295R steroidogenesis model associated with exposure to the mycotoxin zearalenone and its metabolites, α- and β-zearalenol

E. Ropstad, C. Frizzell, L. Connolly, 2012 .

Identification of surface proteins in Enterococcus faecalis V583

G. Mathiesen, V. Eijsink, Liv Anette Bøhle, 2011, BMC Genomics.

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

K. Tveten, Cathrine Goberg Olsen, Ø. Busk, 2023, Amyotrophic lateral sclerosis & frontotemporal degeneration.