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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
Wadensten E, Wessman S, Abel F, Diaz De Ståhl T, Tesi B, Orsmark Pietras C, Arvidsson L, Taylan F, Fransson S, Vogt H, Poluha A, Pradhananga S, Hellberg M, Lagerstedt-Robinson K, Raj Somarajan P, Samuelsson S, Orrsjö S, Maqbool K, Henning K, Strid T, Ek T, Fagman H, Olsson Bontell T, Martinsson T, Puls F, Kogner P, Wirta V, Pronk CJ, Wille J, Rosenquist R, Nistér M, Mertens F, Sabel M, Norén-Nyström U, Grillner P, Nordgren A, Ljungman G, Sandgren J, Gisselsson D; Genomic Medicine Sweden Childhood Cancer Working Group. Wadensten E, et al. Among authors: poluha a. JCO Precis Oncol. 2023 Jun;7:e2300039. doi: 10.1200/PO.23.00039. JCO Precis Oncol. 2023. PMID: 37384868 Free PMC article.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: poluha a. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
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: poluha a. PLoS One. 2022 Feb 17;17(2):e0264056. doi: 10.1371/journal.pone.0264056. eCollection 2022. PLoS One. 2022. PMID: 35176117 Free PMC article.
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Maya-González C, Wessman S, Lagerstedt-Robinson K, Taylan F, Tesi B, Kuchinskaya E, McCluggage WG, Poluha A, Holm S, Nergårdh R, Díaz De Ståhl T, Höybye C, Tettamanti G, Delgado-Vega AM, Skarin Nordenvall A, Nordgren A. Maya-González C, et al. Among authors: poluha a. Front Med (Lausanne). 2023 Jul 28;10:1172565. doi: 10.3389/fmed.2023.1172565. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37575996 Free PMC article.
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Hettmer S, Dachy G, Seitz G, Agaimy A, Duncan C, Jongmans M, Hirsch S, Kventsel I, Kordes U, de Krijger RR, Metzler M, Michaeli O, Nemes K, Poluha A, Ripperger T, Russo A, Smetsers S, Sparber-Sauer M, Stutz E, Bourdeaut F, Kratz CP, Demoulin JB. Hettmer S, et al. Among authors: poluha a. Fam Cancer. 2021 Oct;20(4):327-336. doi: 10.1007/s10689-020-00204-2. Epub 2020 Sep 5. Fam Cancer. 2021. PMID: 32888134 Free PMC article.
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.
Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ; SIOPE Host Genome Working Group; CanGene-CanVar Clinical Guideline Working Group; Expert Network Members. Bakhuizen JJ, et al. Fam Cancer. 2021 Oct;20(4):337-348. doi: 10.1007/s10689-021-00264-y. Epub 2021 Jun 25. Fam Cancer. 2021. PMID: 34170462 Free PMC article.