Publications by authors named "Oyvind L Busk"

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Association of with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort.
Camilla Novy, Ole-Bjørn Tysnes, Øyvind L Busk, Keson Jaioun, Trygve Holmøy

Amyotroph Lateral Scler Frontotemporal Degener· August 2025

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Angela Peron, Felice D'Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, Øyvind Løvold Busk

Eur J Hum Genet· March 2025

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Øyvind L Busk

Am J Hum Genet· November 2024

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Repeat expansions in , , and in Norwegian patients diagnosed with amyotrophic lateral sclerosis.
Camilla Novy, Øyvind L Busk, Ole-Bjørn Tysnes, Sigve S Landa, Tori N Aanjesen

Brain Commun· March 2024

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Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.
Cathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, Kristian Tveten, Trygve Holmøy

Amyotroph Lateral Scler Frontotemporal Degener· February 2024

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Øyvind L Busk

Sci Adv· March 2023

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Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study.
Cathrine Goberg Olsen, Øyvind Løvold Busk, Tori Navestad Aanjesen, Karl Bjørnar Alstadhaug, Ingrid Kristine Bjørnå

Neuroepidemiology· September 2022

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Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Helle Høyer, Øyvind L Busk, Q Ying Esbensen, Oddveig Røsby, Hilde T Hilmarsen

BMC Neurol· August 2022

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, Øystein L Holla, Øyvind L Busk

Am J Med Genet A· January 2022

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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Ilaria Mannucci, Nghi D P Dang, Hannes Huber, Jaclyn B Murry, Jeff Abramson, Øyvind L Busk

Genome Med· May 2021

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique R M Vlaskamp, Birgitte Bertelsen, Øyvind L Busk

Genet Med· February 2021

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir Julius Braathen, Nataliya Di Donato, Øyvind L Busk

Am J Hum Genet· July 2019

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Øyvind L Busk

Am J Hum Genet· March 2019

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Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.
Charlotte Gibbs, Jacob Thalamus, Kristian Tveten, Øyvind L Busk, Jan Hysing

J Am Heart Assoc· August 2018

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Øyvind Løvold Busk

Am J Hum Genet· November 2017

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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.
Gry B N Nordang, Øyvind L Busk, Kristian Tveten, Hans Ivar Hanevik, Anne Kristin M Fell

Mol Genet Metab· May 2017

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R Bearden, Asbjorg Stray-Pedersen, Oyvind L Busk

Am J Hum Genet· February 2017

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Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing".
Helle Høyer, Geir J Braathen, Øyvind L Busk, Øystein L Holla, Marit Svendsen

Biomed Res Int· February 2016

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Clinical exome sequencing – Norwegian findings.
Øystein L Holla, Øyvind L Busk, Kristian Tveten, Hilde T Hilmarsen, Linda Strand

Tidsskr Nor Laegeforen· November 2015

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Hereditary peripheral neuropathies diagnosed by next-generation sequencing.
Helle Høyer, Øyvind L Busk, Øystein L Holla, Linda Strand, Michael B Russell

Tidsskr Nor Laegeforen· November 2015

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Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Helle Høyer, Geir J Braathen, Øyvind L Busk, Øystein L Holla, Marit Svendsen

Biomed Res Int· March 2015

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Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
Oystein L Holla, Gunter Bock, Oyvind L Busk, Björn Logi Isfoss

Endoscopy· June 2014

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Cytosol protein regulation in H295R steroidogenesis model induced by the zearalenone metabolites, α- and β-zearalenol.
Øyvind L Busk, Caroline Frizzell, Steven Verhaegen, Silvio Uhlig, Lisa Connolly

Toxicon· January 2012

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Relative quantification of the proteomic changes associated with the mycotoxin zearalenone in the H295R steroidogenesis model.
Øyvind L Busk, Doreen Ndossi, Steven Verhaegen, Lisa Connolly, Gunnar Eriksen

Toxicon· November 2011

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Identification of surface proteins in Enterococcus faecalis V583.
Liv Anette Bøhle, Tahira Riaz, Wolfgang Egge-Jacobsen, Morten Skaugen, Øyvind L Busk

BMC Genomics· March 2011

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