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Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity.
Sci Transl Med. 2016 Nov 2;8(363):363ra149. doi: 10.1126/scitranslmed.aag1974.
Sci Transl Med. 2016.
PMID: 27807284
Free PMC article.
A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.
Faergeman SL, Evans H, Attfield KE, Desel C, Kuttikkatte SB, Sommerlund M, Jensen LT, Frokiaer J, Friese MA, Matthews PM, Luchtenborg C, Brügger B, Oturai AB, Dendrou CA, Fugger L.
Faergeman SL, et al.
Cell Death Dis. 2020 May 1;11(5):303. doi: 10.1038/s41419-020-2494-0.
Cell Death Dis. 2020.
PMID: 32358523
Free PMC article.
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A novel nonsense variant in MED12 associated with malformations in a female fetus.
Faergeman SL, Becher N, Andreasen L, Christiansen M, Frost L, Vogel I.
Faergeman SL, et al.
Clin Case Rep. 2021 Dec 22;9(12):e05124. doi: 10.1002/ccr3.5124. eCollection 2021 Dec.
Clin Case Rep. 2021.
PMID: 34987808
Free PMC article.
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Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA.
Faergeman SL, et al.
Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3.
Eur J Med Genet. 2021.
PMID: 34229113
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The clinical use of polygenic risk scores.
Terkelsen T, Hansen TF, Herlin MK, Djursby M, Nyegaard M, Pedersen IS, Lildballe DL, Færgeman SL, Sunde L, Hauberg ME.
Terkelsen T, et al. Among authors: faergeman sl.
Ugeskr Laeger. 2023 Sep 25;185(39):V04230258.
Ugeskr Laeger. 2023.
PMID: 37873989
Free article.
Review.
Danish.
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