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2025
Mark Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia
Taudien, Jacqueline E. ; Bracht, Diana ; Olbrich, Heike ; Swirski, Sebastian ; D'Abrusco, Fulvio ; Van der Zwaag, Bert ; Möller, Maike ; Lücke, Thomas ; Teig, Norbert and Lindberg, Ulrika ^LU , et al. (2025) In iScience 28(2).
- Contribution to journal › Article
Mark Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus
Giontella, Alice ^LU ; Åkerlund, Mikael ^LU ; Bronton, Kevin ^LU ; Fava, Cristiano ^LU ; Lotta, Luca A. ; Baras, Aris ; Overton, John D. ; Jones, Marcus ; Bergmann, Andreas and Kaufmann, Paul , et al. (2025) In Journal of Clinical Endocrinology and Metabolism 110(3). p.820-829
- Contribution to journal › Article
Mark TREM2 risk variants and associated endophenotypes in alzheimer’s disease
Dijkstra, Janna I.R. ; Vermunt, Lisa ; Venkatraghavan, Vikram ; Ozhegov, Georgii ; Coomans, Emma M. ^LU ; Ossenkoppele, Rik ^LU ; van de Giessen, Elsmarieke ; Hulsman, Marc ; de Geus, Christa M. and van der Flier, Wiesje M. , et al. (2025) In Alzheimer's Research and Therapy 17(1).
- 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 TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism
Kafantari, Efthymia ^LU ; Hernandez, Victoria J. ; Necpál, Ján ; Leonidou, Marina ; Baureder, Regina ^LU ; Hedberg-Oldfors, Carola ^LU ; Jech, Robert ; Zech, Michael ; Schwartz, Thomas U. and Puschmann, Andreas ^LU (2025) In Parkinsonism and Related Disorders 134.
- 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
- Contribution to journal › Letter
Mark Epigenome-wide association study of objectively measured physical activity in peripheral blood leukocytes
Fragoso-Bargas, Nicolas ^LU ; Mcbride, Nancy S ; Lee-Ødegård, Sindre ; Lawlor, Deborah A ; Yousefi, Paul D ; Moen, Gunn-Helen ; Opsahl, Julia O ; Jenum, Anne Karen ; Franks, Paul W ^LU and Prasad, Rashmi B ^LU , et al. (2025) In BMC Genomics 26(1).
- Contribution to journal › Article
Mark Benchmarking Alzheimer’s disease prediction : personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies
Bellou, Eftychia ; Kim, Woori ; Leonenko, Ganna ; Tao, Feifei ; Simmonds, Emily ; Wu, Ying ; Mattsson-Carlgren, Niklas ^LU ; Hansson, Oskar ^LU ; Nagle, Michael W. and Escott-Price, Valentina (2025) In Alzheimer's Research and Therapy 17(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
- Contribution to journal › Article
Mark Interlaboratory exercise to establish proficiency testing for sequencing of forensic STR and SNP markers
Sadam, Maarja ; Sidstedt, Maja ^LU ; Järving, Reet ; Kampmann, Marie Louise ; Mogensen, Helle Smidt ; Hanssen, Eirik Natås ; Janssen, Kirstin ; Salvo, Nina Mjølsnes ; Hedman, Johannes ^LU and Väli, Marika (2025) In Forensic Science International: Genetics 78.
- Contribution to journal › Article

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