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2024
Mark Functional variant rs9344 at 11q13.3 regulates CCND1 expression in multiple myeloma with t(11;14)
Tang, Hongwei ; Yan, Huihuang ; Shivaram, Suganti ; Lehman, Stacey ; Sharma, Neeraj ; Smadbeck, James ; Zepeda-Mendoza, Cinthya ; Tian, Shulan ; Asmann, Yan and Vachon, Celine , et al. (2024) In Leukemia
- 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
Mark A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt, Jesper ; Ameur, Adam ; Lenner, Felix ; Berk de Boer, Esmee Ten ; Ek, Marlene ; Wincent, Josephine ; Vaz, Raquel ; Ottosson, Jesper ; Jonson, Tord ^LU and Ivarsson, Sofie , et al. (2024) In Genome Research 34(11). p.1774-1784
- Contribution to journal › Article
Mark Clinicopathologic and molecular study of superficial CD34-positive fibroblastic tumours mimicking atypical fibrous histiocytoma (dermatofibroma)
Wakefield, Craig B. ; Mertens, Fredrik ^LU ; Fletcher, Christopher D.M. and Anderson, William J. (2024) In Histopathology 85(6). p.939-949
- Contribution to journal › Article
Mark Feasibility for non-invasive prenatal fetal blood group and platelet genotyping by massively parallel sequencing : A single test system for multiple atypical red cell, platelet and quality control markers
McGowan, Eunike C. ^LU ; O'Brien, Helen ; Sarri, Mia E. ; Lopez, Genghis H. ; Daly, James J. ; Flower, Robert L. ; Gardener, Glenn J. and Hyland, Catherine A. (2024) In British Journal of Haematology 204(2). p.694-705
- Contribution to journal › Article
Mark Multiomics profiling of DNA methylation, microRNA, and mRNA in skeletal muscle from monozygotic twin pairs discordant for type 2 diabetes identifies dysregulated genes controlling metabolism
Ling, Charlotte ^LU ; Vavakova, Magdalena ^LU ; Ahmad Mir, Bilal ^LU ; Säll, Johanna ^LU ; Perfilyev, Alexander ^LU ; Martin, Melina ^LU ; Jansson, Per-Anders ; Davegårdh, Cajsa ^LU ; Asplund, Olof ^LU and Hansson, Ola ^LU , et al. (2024) In BMC Medicine 22(1).
- Contribution to journal › Article
Mark Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort
Akerlund, Mikael ^LU ; Baskozos, Georgios ; Li, Wenqianglong ; Themistocleous, Andreas C. ; Pascal, Mathilde M.V. ; Rayner, N. William ; Attal, Nadine ; Baron, Ralf ; Baudic, Sophie and Bennedsgaard, Kristine , et al. (2024) In Pain
- Contribution to journal › Article
Mark CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma
Saba, Karim H. ^LU ; Difilippo, Valeria ^LU ; Styring, Emelie ^LU ; Nilsson, Jenny ^LU ; Magnusson, Linda ^LU ; van den Bos, Hilda ; Wardenaar, René ; Spierings, Diana C.J. ; Foijer, Floris and Nathrath, Michaela , et al. (2024) In npj Genomic Medicine 9(1).
- Contribution to journal › Article
Mark Diagnosing Monogenic Stroke at Younger Age
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Kristoffersson, Ulf ^LU ; Englund, Elisabet ^LU ; Puschmann, Andreas ^LU and Lindgren, Arne G. ^LU (2024) In Stroke 55(12). p.2846-2855
- Contribution to journal › Article
Mark A burden of rare copy number variants in obsessive-compulsive disorder
Halvorsen, Matthew W. ; de Schipper, Elles ; Bäckman, Julia ; Strom, Nora I. ; Hagen, Kristen ; Zayats, Tetyana ; Eide, Thorstein Olsen ; Noh, Hyun Ji ; Morrill, Kathleen and Lichtenstein, Paul , et al. (2024) In Molecular Psychiatry
- Contribution to journal › Article

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