Division of Clinical Genetics

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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
Mark High prevalence of undocumented SARS-CoV-2 infections revealed by analysis of nucleocapsid-specific IgG responses in diagnosed and undiagnosed individuals
Blom, Kim ; Galanis, Ilias ; Bacchus, Philip ^LU ; Sondén, Klara ; Bujila, Ioana ; Efimova, Tatiana ; Garli, Fredrik ; Mansjö, Mikael ; Movert, Elin ^LU and Pettke, Aleksandra , et al. (2025) In PLOS global public health 5(1).
- Contribution to journal › Article
Mark Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families
Omran, Meis ; Liu, Yaxuan ; Sun Zhang, Alexander ; Poluha, Anna ; Stenmark-Askmalm, Marie ^LU ; Persson, Fredrik ; Hallbeck, Anna Lotta ; Rosén, Anna ; Helgadottir, Hafdis T. and Tham, Emma , et al. (2025) In European Journal of Human Genetics 33(4). p.513-522
- Contribution to journal › Article
Mark Single-cell Sequencing of Acute Leukemia
Thorsson, Hanna ^LU (2025) In Lund University, Faculty of Medicine Doctoral Dissertation Series
- Thesis › Doctoral thesis (compilation)
Mark Comparative Clinical and Imaging-Based Evaluation of Therapeutic Modalities in CNS Embryonal Tumours With PLAGL Amplification
Keck, Michaela Kristina ; Tietze, Anna ; Bison, Brigitte ; Avula, Shivaram ; Engelhardt, Julien ; Faure-Conter, Cécile ; Fenouil, Tanguy ; Figarella-Branger, Dominique ; Goebell, Einar and Gojo, Johannes , et al. (2025) In Neuropathology and Applied Neurobiology 51(2).
- Contribution to journal › Article
Mark Discovery of Cis-Regulatory Mechanisms via Non-Coding Mutations in Acute Lymphoblastic Leukemia
Aydın, Efe ^LU ; Woodward, Eleanor L. ^LU ; Dushime, Gladys Telliam ^LU ; Gunnarsson, Rebeqa ^LU ; Lilljebjörn, Henrik ^LU ; Moura-Castro, Larissa H. ^LU ; Fioretos, Thoas ^LU ; Johansson, Bertil ^LU ; Paulsson, Kajsa ^LU and Yang, Minjun ^LU (2025) In Genes Chromosomes and Cancer 64(3).
- Contribution to journal › Article
Mark Tracing metastatic spread in pediatric solid tumors using copy number and targeted deep sequencing
Andersson, Natalie ^LU ; Ferro, Michele ^LU ; Jansson, Caroline ^LU ; Chattopadhyay, Subhayan ^LU ; Karlsson, Jenny ^LU and Gisselsson, David ^LU (2025) In Journal of Pathology 267(3). p.1-19
- Contribution to journal › Article
Mark Whole genome sequencing in early onset advanced heart failure
Linnér, Erik ^LU ; Czuba, Tomasz ^LU ; Gidlöf, Olof ^LU ; Lundgren, Jakob ^LU ; Bollano, Entela ; Hellberg, Maria ; Celik, Selvi ^LU ; Pimpalwar, Neha ^LU ; Rentzsch, Philipp ^LU and Martorella, Molly ^LU , et al. (2025) In Scientific Reports 15(1).
- Contribution to journal › Article
Mark CNS Embryonal Tumor with PLAGL Amplification, a New Tumor in Children and Adolescents : Insights from a Comprehensive MRI Analysis
Tietze, Anna ; Bison, B. ; Engelhardt, J. ; Fenouil, T. ; Figarella-Branger, D. ; Goebell, E. ; Hakumäki, J. ; Koscielniak, E. ; Ludlow, L. E. and Meyronet, D. , et al. (2025) In American Journal of Neuroradiology 46(3). p.536-543
- Contribution to journal › Article
Mark Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Kämpe, Anders ; Gudmundsson, Sanna ; Walsh, Colum P ; Lindblad-Toh, Kerstin ^LU ; Johansson, Åsa ; Clareborn, Anna ; Ameur, Adam ; Edsjö, Anders ^LU ; Fioretos, Thoas ^LU and Ehrencrona, Hans ^LU , et al. (2025) In Nature Medicine 31(6).
- Contribution to journal › Letter

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