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N. Lesko · SciRah

Researcher profile · Semantic Scholar

N. Lesko

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N. Lesko — researcher profile on SciRah

h-index: 15
Works: 43
Citations: 1,468

Most-cited papers

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.
Metodi D. Metodiev, N. Lesko, Chan Bae Park, Yolanda Cámara +5 more
2009Cell Metabolism325 citations Open access
Semantic Scholar
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
H. Stranneheim, K. Lagerstedt-Robinson, Måns Magnusson, M. Kvarnung +48 more
2021Genome Medicine255 citations Open access
Semantic Scholar
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
T. Stödberg, A. Mctague, Arnaud J. Ruiz, Hiromi Hirata +28 more
2015Nature Communications173 citations Open access
Semantic Scholar
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Magnus K. Bjursell, H. Blom, Jordi Asin Cayuela, M. Engvall +12 more
2011American Journal of Human Genetics120 citations Open access
Semantic Scholar
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
C. Freyer, H. Stranneheim, Karin Naess, A. Mourier +14 more
2015Journal of Medical Genetics112 citations Open access
Semantic Scholar
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Yoshihito Kishita, A. Pająk, N. Bolar, C. M. Marobbio +22 more
2015American Journal of Human Genetics80 citations Open access
Semantic Scholar
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
H. Stranneheim, M. Engvall, Karin Naess, N. Lesko +14 more
2014BMC Genomics69 citations Open access
Semantic Scholar
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
N. Lesko, Karin Naess, R. Wibom, N. Solaroli +4 more
2010Neuromuscular Disorders50 citations
Semantic Scholar
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation
Javier Calvo-Garrido, Camilla Maffezzini, Florian A. Schober, P. Clemente +10 more
2019Stem Cell Reports41 citations Open access
Semantic Scholar
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Saara Tegelberg, Nikica Tomašić, J. Kallijärvi, J. Purhonen +14 more
2017Orphanet Journal of Rare Diseases26 citations Open access
Semantic Scholar
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
T. Stödberg, Måns Magnusson, N. Lesko, A. Wredenberg +3 more
2020Neurology: Genetics24 citations Open access
Semantic Scholar
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
C. Gineste, A. Hernández, Niklas Ivarsson, Arthur J. Cheng +13 more
2015Human Molecular Genetics21 citations Open access
Semantic Scholar
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
Triinu Siibak, P. Clemente, A. Bratić, Helene Bruhn +12 more
2017Human Molecular Genetics19 citations Open access
Semantic Scholar
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Sofia Ygberg, Karin Naess, Mats A. Eriksson, H. Stranneheim +6 more
2016European journal of paediatric neurology18 citations
Semantic Scholar
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7
S. Correia, M. Moedas, Karin Naess, Helene Bruhn +10 more
2021Human Mutation17 citations Open access
Semantic Scholar
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
Erik Rosenhahn, T. O'Brien, M. Zaki, I. Sorge +43 more
2022American Journal of Human Genetics14 citations Open access
Semantic Scholar
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease
S. Correia, M. Moedas, Lucie S Taylor, Karin Naess +16 more
2024JCI Insight13 citations Open access
Semantic Scholar
Clinical Presentation, Genetic Etiology and Coenzyme Q10 Level in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
Karin Naess, Helene Bruhn, H. Stranneheim, C. Freyer +8 more
2020Jornal de Pediatria13 citations
Semantic Scholar
Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
Helen al Tuppen, Karin Naess, N. Kennaway, M. Aldosary +9 more
2012European Journal of Human Genetics13 citations Open access
Semantic Scholar
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals
Olivia J. Henry, S. Ygberg, M. Barbaro, N. Lesko +7 more
2025Epilepsia12 citations Open access
Semantic Scholar
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
M. Engvall, A. Kawasaki, V. Carelli, R. Wibom +6 more
2021Frontiers in Neurology9 citations Open access
Semantic Scholar
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
Karin Naess, M. Barbaro, Helene Bruhn, R. Wibom +5 more
2012JIMD Reports9 citations Open access
Semantic Scholar
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
C. Rasi, D. Nilsson, Måns Magnusson, N. Lesko +5 more
2021Human Mutation8 citations Open access
Semantic Scholar
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
Helene Bruhn, K. Samuelsson, Florian A. Schober, M. Engvall +9 more
2021Neurology: Genetics6 citations Open access
Semantic Scholar
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Helene Bruhn, Karin Naess, Sofia Ygberg, L. Peña-Pérez +6 more
2024Human Mutation4 citations Open access
Semantic Scholar
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications
E. Rosenhahn, T. O'Brien, M. Zaki, I. Sorge +36 more
2022medRxiv4 citations Open access
Semantic Scholar
Partial tetrasomy 14 associated with multiple malformations
J. Winberg, Kristina Lagerstedt Robinson, Karin Naess, N. Lesko +7 more
2013American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
A. Lindstrand, K. Lagerstedt-Robinson, A. Jemt, M. Kvarnung +83 more
2026Genome Medicine3 citations Open access
Semantic Scholar
Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
Helen al Tuppen, Karin Naess, N. Kennaway, M. Aldosary +9 more
2012European Journal of Human Genetics2 citations Open access
Semantic Scholar
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
A. Jackson, A. Blakes, B. Alhaddad, Olivia J. Henry +58 more
2026Nature Genetics1 citations Open access
Semantic Scholar
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
D. Erdinc, B. Macao, Sebastian Valenzuela, N. Lesko +6 more
2023Biochimica et Biophysica Acta - Molecular Basis of Disease1 citations Open access
Semantic Scholar
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7
S. Correia, M. Moedas, Karin Naess, Helene Bruhn +11 more
20211 citations
Semantic Scholar
Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures
Arnaud J. Ruiz, J. Zhen, Philip Long, E. Meyer +15 more
20161 citations
Semantic Scholar
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue
H. Tuppen, Karin Naess, N. Kennaway, M. Aldosary +9 more
20121 citations
Semantic Scholar
Retained Sensitivity to Cytotoxic Pyrimidine Nucleoside Analogs in Thymidine Kinase 2 Deficient Human Fibroblasts
M. Bjerke, N. Solaroli, N. Lesko, J. Balzarini +2 more
2010Nucleosides, Nucleotides & Nucleic Acids1 citations Open access
Semantic Scholar
Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy
O. J. Henry, N. P. Pacheco, I. Duba, M. Burstedt +20 more
2026medRxiv0 citations Open access
Semantic Scholar
Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.
Olivia J. Henry, Nadja Pekkola Pacheco, I. Duba, M. Burstedt +20 more
2026Epilepsia0 citations Open access
Semantic Scholar
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment
R. I. Glasgow, F. Lennartsson, S. Arnardóttir, Dmitrii Shiriaev +14 more
2026Human Molecular Genetics0 citations Open access
Semantic Scholar
Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015–2023
Lene Sörensen, Jorge Asin-Cayuela, M. Barbaro, Helene Bruhn +10 more
2025International Journal of Neonatal Screening0 citations Open access
Semantic Scholar
Union Hotel: Uniting the Past with the Present through the Union of People & Place
N. Lesko
20160 citations
Semantic Scholar
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
H. Stranneheim, M. Engvall, Karin Naess, N. Lesko +14 more
2014BMC Genomics0 citations Open access
Semantic Scholar
Erratum: Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (European Journal of Human Genetics (2012) 20 (897-904) DOI:10.1038/ejhg.2012.44)
H. Tuppen, Karin Naess, N. Kennaway, M. Aldosary +9 more
20120 citations Open access
Semantic Scholar
A strategy for identifying nuclear modifier genes by massively parallel whole-genome sequencing
H. Stranneheim, Magnus K. Bjursell, Karin Naess, M. Engvall +8 more
20110 citations
Semantic Scholar

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