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2025
Mark Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands
van den Bersselaar, Luuk R. ; Schiemann, Anja H. ; Yang, Chu Ya ; Voermans, Nicol C. ; Malagon, Ignacio ; Scheffer, Gert Jan ; Bjorksten, Andrew R. ; Gillies, Robyn ; Hellblom, Anna ^LU and Kamsteeg, Erik Jan , et al. (2025) In British Journal of Anaesthesia
- Contribution to journal › Article
2024
Mark Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Gorcenco, Sorina ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Karremo, Christin ^LU ; Alinder, Erik ; Dobloug, Sigurd ^LU ; Landqvist Waldö, Maria ^LU ; Englund, Elisabet ^LU ; Ehrencrona, Hans ^LU and Wictorin, Klas ^LU , et al. (2024) In Journal of Neurology 271(1). p.526-542
- Contribution to journal › Article
Mark Current and emerging sequencing-based tools for precision cancer medicine
Edsjö, Anders ^LU ; Gisselsson, David ^LU ; Staaf, Johan ^LU ; Holmquist, Louise ; Fioretos, Thoas ^LU ; Cavelier, Lucia and Rosenquist, Richard (2024) In Molecular Aspects of Medicine 96.
- Contribution to journal › Scientific review
Mark Re-evaluating evidence for giant genomes in amoebae
Barzilay, Daniel ; Alcino, João P.B. ; Ribeiro, Giulia M. ^LU ; Sousa, Alfredo L.P. and Lahr, Daniel J.G. (2024) In Genetics and Molecular Biology 47(suppl 1).
- Contribution to journal › Scientific review
Mark Real-World Performance of Integrative Clinical Genomics in Pediatric Precision Oncology
Pokorna, Petra ; Palova, Hana ; Adamcova, Sona ; Jugas, Robin ; Al Tukmachi, Dagmar ; Kyr, Michal ; Knoflickova, Dana ; Kozelkova, Katerina ; Bystry, Vojtech and Mejstrikova, Sona , et al. (2024) In Laboratory Investigation 104(12). p.1-12
- Contribution to journal › Article
Mark Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity : Experience from two centres
Morandi, Anita ; Fornari, Elena ; Corradi, Massimiliano ; Umano, Giuseppina Rosaria ; Olivieri, Francesca ; Piona, Claudia ; Maguolo, Alice ^LU ; Panzeri, Carola ; Emiliani, Federica and Cirillo, Grazia , et al. (2024) In Pediatric obesity 19(12).
- Contribution to journal › Article
2022
Mark The Effectiveness of Metagenomic Next-Generation Sequencing in the Diagnosis of Prosthetic Joint Infection : A Systematic Review and Meta-Analysis
Tan, Jun ; Liu, Yang ^LU ; Ehnert, Sabrina ; Nüssler, Andreas K. ; Yu, Yang ; Xu, Jianzhong and Chen, Tao (2022) In Frontiers in cellular and infection microbiology 12.
- Contribution to journal › Scientific review
Mark Next-Generation Biowarfare : Small in Scale, Sensational in Nature?
Gisselsson, David ^LU (2022) In Health Security 20(2). p.182-186
- Contribution to journal › Debate/Note/Editorial
2021
Mark Late Quaternary Dynamics of Arctic Biota from Ancient Environmental Genomics
Wang, Yucheng ; Winther Pedersen, Mikkel ; Alsos, Inger Greve ; De Sanctis, Bianca ; Racimo, Fernando ; Prohaska, Ana ; Coissac, Eric ; Owens, Hannah Lois ; Merkel, Marie Kristine Føreid and Fernandez-Guerra, Antonio , et al. (2021) In Nature 600(7887). p.86-92
- Contribution to journal › Article
Mark High-resolution genotyping of HLA class I loci in children with type 1 diabetes and celiac disease
Alshiekh, Shehab ^LU ; Geraghty, Daniel E. and Agardh, Daniel ^LU (2021) In HLA: Immune Response Genetics 97(6). p.505-511
- Contribution to journal › Article

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