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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K, Baranowska Körberg I, Tsiaprazis S, Björck E, Tham E, Poluha A, Hellström Pigg M, Paulsson-Karlsson Y, Nordenskjöld M, Johansson-Soller M, Aravidis C. Lagerstedt-Robinson K, et al. Among authors: paulsson karlsson y. PLoS One. 2022 Feb 17;17(2):e0264056. doi: 10.1371/journal.pone.0264056. eCollection 2022. PLoS One. 2022. PMID: 35176117 Free PMC article.
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A, Rosén A, Raaschou-Jensen K, Kjeldsen L, Moilanen JS, Paulsson-Karlsson Y, Baliakas P, Lohi O, Ahmed A, Kittang AO, Larsson P, Roos G, Degerman S, Hultdin M. Norberg A, et al. Among authors: paulsson karlsson y. Eur J Hum Genet. 2018 Jun;26(6):858-867. doi: 10.1038/s41431-018-0112-8. Epub 2018 Feb 26. Eur J Hum Genet. 2018. PMID: 29483670 Free PMC article.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG. Moghadasi S, et al. Among authors: paulsson karlsson y. J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10. J Med Genet. 2018. PMID: 28490613
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Wendt C, Muranen TA, Mielikäinen L, Thutkawkorapin J, Blomqvist C, Jiao X, Ehrencrona H, Tham E, Arver B, Melin B, Kuchinskaya E, Stenmark Askmalm M, Paulsson-Karlsson Y, Einbeigi Z, von Wachenfeldt Väppling A, Kalso E, Tasmuth T, Kallioniemi A, Aittomäki K, Nevanlinna H, Borg Å, Lindblom A. Wendt C, et al. Among authors: paulsson karlsson y. Sci Rep. 2021 Jul 20;11(1):14763. doi: 10.1038/s41598-021-93926-x. Sci Rep. 2021. PMID: 34285278 Free PMC article.
Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53).
Omran M, Tham E, Brandberg Y, Ahlström H, Lundgren C, Paulsson-Karlsson Y, Kuchinskaya E, Silander G, Rosén A, Persson F, Leonhardt H, Stenmark-Askmalm M, Berg J, van Westen D, Bajalica-Lagercrantz S, Blomqvist L; the Swedish Clinical TP53 Study Group (SweClinTP53). Omran M, et al. Among authors: paulsson karlsson y. Cancers (Basel). 2022 Jan 13;14(2):380. doi: 10.3390/cancers14020380. Cancers (Basel). 2022. PMID: 35053544 Free PMC article.
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