| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 144 | 2017 |
| Identification of surface proteins in Enterococcus faecalis V583 LA Bøhle, T Riaz, W Egge-Jacobsen, M Skaugen, ØL Busk, VGH Eijsink, ... BMC genomics 12, 1-14, 2011 | 85 | 2011 |
| Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing H Høyer, GJ Braathen, ØL Busk, ØL Holla, M Svendsen, HT Hilmarsen, ... BioMed research international 2014, 2014 | 80 | 2014 |
| 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 GBN Nordang, ØL Busk, K Tveten, HI Hanevik, AKM Fell, J Hjelmesæth, ... Molecular genetics and metabolism 121 (1), 51-56, 2017 | 65 | 2017 |
| A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 47 | 2017 |
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns H Stamberger, TB Hammer, E Gardella, DRM Vlaskamp, B Bertelsen, ... Genetics in Medicine 23 (2), 363-373, 2021 | 43 | 2021 |
| Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 43 | 2019 |
| De novo variants in TAOK1 cause neurodevelopmental disorders M Dulovic-Mahlow, J Trinh, KK Kandaswamy, GJ Braathen, N Di Donato, ... The American Journal of Human Genetics 105 (1), 213-220, 2019 | 41 | 2019 |
| Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction ØL Holla, G Bock, ØL Busk, BL Isfoss Endoscopy 46 (06), 533-537, 2014 | 35 | 2014 |
| Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders I Mannucci, NDP Dang, H Huber, JB Murry, J Abramson, T Althoff, ... Genome medicine 13 (1), 90, 2021 | 20 | 2021 |
| Cytosol protein regulation in H295R steroidogenesis model induced by the zearalenone metabolites, α-and β-zearalenol ØL Busk, C Frizzell, S Verhaegen, S Uhlig, L Connolly, E Ropstad, ... Toxicon 59 (1), 17-24, 2012 | 20 | 2012 |
| Relative quantification of the proteomic changes associated with the mycotoxin zearalenone in the H295R steroidogenesis model ØL Busk, D Ndossi, S Verhaegen, L Connolly, G Eriksen, E Ropstad, ... Toxicon 58 (6-7), 533-542, 2011 | 20 | 2011 |
| Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family GJ Braathen, H Høyer, ØL Busk, K Tveten, CF Skjelbred, MB Russell Acta neurologica Scandinavica 134 (1), 67-75, 2016 | 17 | 2016 |
| State MW S Küry, GM van Woerden, T Besnard, M Proietti Onori, X Latypova, ... Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA …, 2017 | 13 | 2017 |
| Clinical exome sequencing–Norwegian findings. ØL Holla, ØL Busk, K Tveten, HT Hilmarsen, L Strand, H Høyer, A Bakken, ... Tidsskrift for den Norske laegeforening: tidsskrift for praktisk medicin, ny …, 2015 | 10 | 2015 |
| Hereditary peripheral neuropathies diagnosed by next-generation sequencing H Høyer, ØL Busk, ØL Holla, L Strand, MB Russell, CF Skjelbred, ... Tidsskrift for Den norske legeforening, 2015 | 8 | 2015 |
| Genetic and phenotypic characterization of community hospital patients with QT prolongation C Gibbs, J Thalamus, K Tveten, ØL Busk, J Hysing, KH Haugaa, ØL Holla Journal of the American Heart Association 7 (16), e009706, 2018 | 7 | 2018 |
| Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice SE Sheppard, L Bryant, RN Wickramasekara, C Vaccaro, B Robertson, ... Science advances 9 (10), eade1463, 2023 | 6 | 2023 |
| Genetic epidemiology of amyotrophic lateral sclerosis in Norway: a 2-year population-based study CG Olsen, ØL Busk, TN Aanjesen, KB Alstadhaug, IK Bjørnå, GJ Braathen, ... Neuroepidemiology 56 (4), 271-282, 2022 | 6 | 2022 |
| Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly … C von der Lippe, K Tveten, TE Prescott, ØL Holla, ØL Busk, KB Burke, ... American Journal of Medical Genetics Part A 188 (1), 272-282, 2022 | 5 | 2022 |
