Tord Jonson

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2024
Mark Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
Saba, Karim H. ^LU ; Difilippo, Valeria ^LU ; Kovac, Michal ; Cornmark, Louise ^LU ; Magnusson, Linda ^LU ; Nilsson, Jenny ^LU ; van den Bos, Hilda ; Spierings, Diana C.J. ; Bidgoli, Mahtab ^LU and Jonson, Tord ^LU , et al. (2024) In Journal of Pathology 262(2). p.147-160
- 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
2022
Mark Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
Elander, Johanna ^LU ; Ullmark, Tove ^LU ; Ehrencrona, Hans ^LU ; Jonson, Tord ^LU ; Piccinelli, Paul ^LU ; Samuelsson, Sofie ^LU ; Löwgren, Karolina ^LU ; Falkenius-Schmidt, Karolina ^LU ; Ehinger, Johannes ^LU and Stenfeldt, Karin ^LU , et al. (2022) In International Journal of Pediatric Otorhinolaryngology 159.
- Contribution to journal › Article
2021
Mark ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
Valind, Anders ^LU ; Stenström, Pernilla ^LU ; Samuelsson, Sofie ^LU ; Jonson, Tord ^LU and Eklund, Erik A. ^LU (2021) In Journal of Pediatric Surgery Case Reports 71.
- Contribution to journal › Article
2020
Mark Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
Christesen, Henrik Thybo ; Christensen, Lene Gaarsmand ; Löfgren, Åsa Mattsson ; Brøndum-Nielsen, Karen ; Svensson, Johan ; Brusgaard, Klaus ; Samuelsson, Sofie ^LU ; Elfving, Maria ^LU ; Jonson, Tord ^LU and Grønskov, Karen , et al. (2020) In European Journal of Medical Genetics 63(1).
- Contribution to journal › Article
2018
Mark Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers
Valind, Anders ^LU ; Wessman, Sandra ; Pal, Niklas ; Karlsson, Jenny ^LU ; Jonson, Tord ^LU ; Sandstedt, Bengt and Gisselsson, David ^LU (2018) In Pediatric Blood & Cancer 65(11).
- Contribution to journal › Article
Mark PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
Régal, Luc ; Mårtensson, Emma ^LU ; Maystadt, Isabelle ; Voermans, Nicol ; Lederer, Damien ; Burlina, Alberto ; Juan Fita, María Jesús ; Hoogeboom, A. Jeannette M. ; Olsson Engman, Mia and Hollemans, Tess , et al. (2018) In Genetics in Medicine 20(1). p.109-118
- Contribution to journal › Article
Mark Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer
Karlsson, Jenny ^LU ; Valind, Anders ^LU ; Holmquist Mengelbier, Linda ^LU ; Bredin, Sofia ; Cornmark, Louise ^LU ; Jansson, Caroline ^LU ; Wali, Amina ; Staaf, Johan ^LU ; Viklund, Björn and Øra, Ingrid ^LU , et al. (2018) In Nature Genetics 50(7). p.944-950
- Contribution to journal › Article
2017
Mark Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Depienne, Christel ; Nava, Caroline ; Keren, Boris ; Heide, Solveig ; Rastetter, Agnès ; Passemard, Sandrine ; Chantot-Bastaraud, Sandra ; Moutard, Marie Laure ; Agrawal, Pankaj B. and VanNoy, Grace , et al. (2017) In Human Genetics 136(4). p.463-479
- Contribution to journal › Article
2016
Mark Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis.
Walther, Charles ^LU ; Mayrhofer, Markus ; Nilsson, Jenny ^LU ; Hofvander, Jakob ^LU ; Jonson, Tord ^LU ; Mandahl, Nils ^LU ; Øra, Ingrid ^LU ; Gisselsson Nord, David ^LU and Mertens, Fredrik ^LU (2016) In Genes, Chromosomes and Cancer 55(1). p.3-15
- Contribution to journal › Article

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