Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

K. Tveten · SciRah

Researcher profile · Semantic Scholar

K. Tveten

Share profile

K. Tveten — researcher profile on SciRah

h-index: 23
Works: 56
Citations: 1,633

Most-cited papers

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
S. Küry, Geeske M. van Woerden, T. Besnard, M. Onori +102 more
2017American Journal of Human Genetics181 citations Open access
Semantic Scholar
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
L. Crotti, C. Spazzolini, D. Tester, A. Ghidoni +37 more
2019European Heart Journal154 citations Open access
Semantic Scholar
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Bo Yuan, J. Neira, D. Pehlivan, Teresa Santiago-Sim +43 more
2018Genetics in Medicine84 citations Open access
Semantic Scholar
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
Semantic Scholar
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
D. Rots, Eric J Chater-Diehl, A. Dingemans, S. Goodman +84 more
2021American Journal of Human Genetics64 citations Open access
Semantic Scholar
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.
G. B. Nordang, Ø. L. Busk, K. Tveten, H. Hanevik +4 more
2017Molecular Genetics and Metabolism63 citations Open access
Semantic Scholar
4‐Phenylbutyrate restores the functionality of a misfolded mutant low‐density lipoprotein receptor
K. Tveten, Ø. L. Holla, T. Ranheim, K. Berge +2 more
2007The FEBS Journal63 citations Open access
Semantic Scholar
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.
K. Tveten, Ø. Holla, J. Cameron, T. Strøm +3 more
2012Human Molecular Genetics62 citations Open access
Semantic Scholar
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
B. Cogné, Sophie Ehresmann, Éliane Beauregard-Lacroix, J. Rousseau +111 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
D. Dyment, P. Terhal, C. Rustad, K. Tveten +9 more
2019European Journal of Human Genetics55 citations Open access
Semantic Scholar
PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum.
T. Strøm, K. Tveten, T. Leren
2014Biochemical Journal49 citations
Semantic Scholar
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Marija Dulovic-Mahlow, J. Trinh, K. Kandaswamy, G. Braathen +22 more
2019American Journal of Human Genetics46 citations Open access
Semantic Scholar
Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain.
T. Strøm, Ø. Holla, K. Tveten, J. Cameron +2 more
2010Molecular Genetics and Metabolism43 citations
Semantic Scholar
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors[S]
Ø. Holla, J. Cameron, K. Tveten, T. Strøm +3 more
2011Journal of Lipid Research41 citations Open access
Semantic Scholar
PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment[S]
K. Tveten, T. Strøm, K. Berge, T. Leren
2013Journal of Lipid Research40 citations Open access
Semantic Scholar
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.
J. Cameron, M. Bogsrud, K. Tveten, T. Strøm +3 more
2012Translational Research: The Journal of Laboratory and Clinical Medicine39 citations
Semantic Scholar
Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum
T. Strøm, K. Tveten, J. K. Laerdahl, T. Leren
2014FEBS Open Bio36 citations Open access
Semantic Scholar
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
S. Jansen, I. M. van der Werf, A. Innes, A. Afenjar +47 more
2019European Journal of Human Genetics34 citations Open access
Semantic Scholar
Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor.
Ø. Holla, J. K. Laerdahl, T. Strøm, K. Tveten +3 more
2011Biochemical and Biophysical Research Communications - BBRC34 citations
Semantic Scholar
Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites
Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee +30 more
2023Science Advances31 citations Open access
Semantic Scholar
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Ilaria Mannucci, Nghi D. P. Dang, H. Huber, J. Murry +61 more
2020medRxiv29 citations Open access
Semantic Scholar
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
N. Voisin, R. Schnur, S. Douzgou, S. Hiatt +64 more
2021American Journal of Human Genetics28 citations Open access
Semantic Scholar
Analysis of alternatively spliced isoforms of human LDL receptor mRNA.
K. Tveten, T. Ranheim, K. Berge, T. Leren +1 more
2006Clinica chimica acta; international journal of clinical chemistry27 citations
Semantic Scholar
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Elin Tønne, B. Due-tønnessen, Inger-Lise Mero, U. Wiig +8 more
2020European Journal of Human Genetics22 citations Open access
Semantic Scholar
Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study
C. G. Olsen, Ø. L. Busk, Tori Aanjesen, K. Alstadhaug +24 more
2022Neuroepidemiology21 citations Open access
Semantic Scholar
A man in his sixties with chondritis and bone marrow failure.
Ø. Midtvedt, A. Stray-Pedersen, H. Andersson, R. Gunnarsson +3 more
2022Tidsskrift for Den Norske Laegeforening21 citations Open access
Semantic Scholar
Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.
K. Tveten, T. Strøm, J. Cameron, K. Berge +1 more
2012Atherosclerosis20 citations
Semantic Scholar
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Yongqiang Zhang, Georgios Tachtsidis, Claudia Schob, M. Koko +19 more
2021Human Molecular Genetics19 citations Open access
Semantic Scholar
Comparison of the ABC and ACMG systems for variant classification
G. Houge, E. Bratland, I. Aukrust, K. Tveten +44 more
2024European Journal of Human Genetics16 citations Open access
Semantic Scholar
Variants in the genes DCTN2,DNAH10,LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family
G. J. Braathen, Helle Høyer, Ø. L. Busk, K. Tveten +2 more
2015Acta Neurologica Scandinavica15 citations Open access
Semantic Scholar
Characterization of a naturally occurring degradation product of the LDL receptor.
K. Tveten, T. Strøm, J. Cameron, Ø. Holla +2 more
2012Molecular Genetics and Metabolism15 citations
Semantic Scholar
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
L. Bownass, S. Abbs, R. Armstrong, G. Baujat +23 more
2019American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders
C. G. Olsen, Ø. L. Busk, Ø. Holla, K. Tveten +3 more
2023Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration13 citations Open access
Semantic Scholar
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Synnøve M. Jensen, K. I. Müller, S. Mellgren, L. Bindoff +7 more
2022Neuromuscular Disorders13 citations Open access
Semantic Scholar
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Charlotte Lippe, K. Tveten, T. Prescott, Ø. Holla +27 more
2021American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Zelha Nil, A. Deshwar, Yan Huang, Scott Barish +31 more
2023American Journal of Human Genetics11 citations Open access
Semantic Scholar
The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR.
K. Tveten, T. Ranheim, K. Berge, T. Leren +1 more
2009Acta Biochimica et Biophysica Sinica11 citations Open access
Semantic Scholar
Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome
C. Rustad, K. Tveten, T. Prescott, Peder O Bjerkeseth +2 more
2021American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation
Charlotte Gibbs, J. Thalamus, K. Tveten, Ø. L. Busk +3 more
2018Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease9 citations Open access
Semantic Scholar
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function
N. Samra, Shir Toubiana, Hilde Yttervik, Aya Tzur-Gilat +11 more
2021Journal of Human Genetics8 citations
Semantic Scholar
Clinical exome sequencing – Norwegian findings.
Ø. Holla, Ø. L. Busk, K. Tveten, H. T. Hilmarsen +5 more
2015Tidsskrift for Den Norske Laegeforening8 citations Open access
Semantic Scholar
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.
T. Strøm, K. Tveten, Ø. Holla, J. Cameron +2 more
2011Biochemical and Biophysical Research Communications - BBRC8 citations
Semantic Scholar
Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway
C. Rustad, R. Bragadottir, K. Tveten, Hilde Nordgarden +8 more
2025Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
Phenotypic expansion of ARSK ‐related mucopolysaccharidosis
C. Rustad, Trine E Prescott, E. Merckoll, E. Kristensen +3 more
2022American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.
T. Strøm, K. Tveten, Ø. Holla, J. Cameron +2 more
2011Biochemical and Biophysical Research Communications - BBRC7 citations
Semantic Scholar
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Scott Barish, Sheng-Jia Lin, R. Maroofian, A. Gezdirici +31 more
2024American Journal of Human Genetics5 citations Open access
Semantic Scholar
Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway
C. Rustad, R. Bragadottir, Hilde Nordgarden, J. U. Miller +6 more
2025BMJ Open4 citations Open access
Semantic Scholar
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
I. Mannucci, Nghi D. P. Dang, H. Huber, J. Murry +61 more
2021Genome Medicine3 citations Open access
Semantic Scholar
Functional Analysis of the Synonymous R385R Mutation in the Low-Density Lipoprotein Receptor Gene
K. Tveten, K. Khoo, K. Berge, T. Leren +1 more
2009Genetic Testing and Molecular Biomarkers2 citations
Semantic Scholar
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S. E. van Oirsouw, P. Nedbalova, M. Hančárová, Jan Prchal +75 more
2025Genetics in Medicine1 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

Ø. Holla×20
Invite
Ø. Holla — researcher profile on SciRah
T. Leren×16
Invite
T. Leren — researcher profile on SciRah
K. Berge×14
Invite
K. Berge — researcher profile on SciRah
Ø. L. Busk×13
Invite
Ø. L. Busk — researcher profile on SciRah

×12

Invite

T. Strøm — researcher profile on SciRah

Invite

J. Cameron — researcher profile on SciRah

Invite

C. Rustad — researcher profile on SciRah

Invite

B. Keren — researcher profile on SciRah

C. von der Lippe×6

Invite

C. von der Lippe — researcher profile on SciRah

Invite

T. Prescott — researcher profile on SciRah

Invite

G. Braathen — researcher profile on SciRah

K. V. van Gassen×5

Invite

K. V. van Gassen — researcher profile on SciRah