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2022
Mark Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield : Results from a nationwide prospective cohort
Svensson, Sara ^LU ; Zagoras, Theofanis ; Aravidis, Christos ; Askmalm, Marie Stenmark ^LU ; Björck, Erik ; Borg, Åke ^LU ; Kuchinskaya, Ekaterina ; Nilbert, Mef ^LU ; Nordling, Margareta and Rohlin, Anna , et al. (2022) In Genes Chromosomes and Cancer 61(10). p.585-591
- Contribution to journal › Article
2019
Mark Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
Olkinuora, Alisa ; Nieminen, Taina T. ; Mårtensson, Emma ^LU ; Rohlin, Anna ^LU ; Ristimäki, Ari ; Koskenvuo, Laura ; Lepistö, Anna ; Gebre-Medhin, Samuel ^LU ; Nordling, Margareta and Peltomäki, Päivi (2019) In Genetics in Medicine 21(8). p.1868-1873
- Contribution to journal › Article
2017
Mark Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Rohlin, Anna ^LU ; Rambech, Eva ^LU ; Kvist, Anders ^LU ; Törngren, Therese ^LU ; Eiengård, Frida ; Lundstam, Ulf ; Zagoras, Theofanis ; Gebre-Medhin, Samuel ^LU ; Borg, Åke ^LU and Björk, Jan , et al. (2017) In Familial Cancer 16(2). p.195-203
- Contribution to journal › Article
2016
Mark Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population
Lagerstedt-Robinson, Kristina ; Rohlin, Anna ; Aravidis, Christos ; Melin, Beatrice ; Nordling, Margareta ; Stenmark-Askmalm, Marie ; Lindblom, Annika and Nilbert, Mef ^LU (2016) In Oncology Reports 36(5). p.2823-2835
- Contribution to journal › Article
2014
Mark Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.
Wittström, Elisabeth ^LU ; Nordling, Margareta and Andréasson, Sten ^LU (2014) In Ophthalmic Genetics 35(2). p.91-106
- Contribution to journal › Article
Mark Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson, Bryony A ; Spurdle, Amanda B ; Plazzer, John-Paul ; Greenblatt, Marc S ; Akagi, Kiwamu ; Al-Mulla, Fahd ; Bapat, Bharati ; Bernstein, Inge ; Capellá, Gabriel and den Dunnen, Johan T , et al. (2014) In Nature Genetics 46. p.107-115
- Contribution to journal › Article

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