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Page 1
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Frederiksen JH, Birkedal U, Bachmann S, Eliesen EV, Rasmussen LJ, Pedersen KV, Al-Zehhawi L, Boonen SE, Krogh L, Rønlund K, Graversen L, Assenholt J, Schmiegelow K, Wadt K, Gerdes AM, Hansen TVO. Frederiksen JH, et al. Among authors: wadt k. Mol Genet Genomic Med. 2024 Nov;12(11):e70026. doi: 10.1002/mgg3.70026. Mol Genet Genomic Med. 2024. PMID: 39548353 Free PMC article.
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer.
Byrjalsen A, Stoltze UK, Lautrup C, Christensen LL, Mikkelsen T, Hjalgrim L, Brok JS, Dahl C, Schmiegelow K, Borgwardt L, Diness BR, Hansen TVO, Wadt KAW. Byrjalsen A, et al. Among authors: wadt kaw. J Med Genet. 2024 Oct 23;61(11):1023-1025. doi: 10.1136/jmg-2024-110255. J Med Genet. 2024. PMID: 39317423 No abstract available.
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Soomann M, Bily V, Elgizouli M, Kraemer D, Akgül G, von Bernuth H, Bloomfield M, Brodszki N, Candotti F, Förster-Waldl E, Freiberger T, Giżewska M, Klocperk A, Kölsch U, Nichols KE, Krüger R, Oak N, Pac M, Prader S, Schmiegelow K, Šedivá A, Sogkas G, Stittrich A, Stoltze UK, Theodoropoulou K, Wadt K, Wong M, Zeyda M, Pachlopnik Schmid J, Trück J. Soomann M, et al. Among authors: wadt k. J Allergy Clin Immunol. 2024 Nov;154(5):1313-1324.e7. doi: 10.1016/j.jaci.2024.08.002. Epub 2024 Aug 13. J Allergy Clin Immunol. 2024. PMID: 39147326 Free article. Review.
Genetic counselling legislation and practice in cancer in EU Member States.
McCrary JM, Van Valckenborgh E, Poirel HA, de Putter R, van Rooij J, Horgan D, Dierks ML, Antonova O, Brunet J, Chirita-Emandi A, Colas C, Dalmas M, Ehrencrona H, Grima C, Janavičius R, Klink B, Koczok K, Krajc M, Lace B, Leitsalu L, Mistrik M, Paneque M, Primorac D, Roetzer KM, Ronez J, Slámová L, Spanou E, Stamatopoulos K, Stoklosa T, Strang-Karlsson S, Szakszon K, Szczałuba K, Turner J, van Dooren MF, van Zelst-Stams WAG, Vassallo LM, Wadt KAW, Žigman T, Ripperger T, Genuardi M, Van den Bulcke M, Bergmann AK. McCrary JM, et al. Among authors: wadt kaw. Eur J Public Health. 2024 Aug 1;34(4):666-675. doi: 10.1093/eurpub/ckae093. Eur J Public Health. 2024. PMID: 38905592 Free PMC article.
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK, Foss-Skiftesvik J, Hansen TVO, Rasmussen S, Karczewski KJ, Wadt KAW, Schmiegelow K. Stoltze UK, et al. Among authors: wadt kaw. Nat Commun. 2024 Feb 29;15(1):1881. doi: 10.1038/s41467-024-45975-9. Nat Commun. 2024. PMID: 38424437 Free PMC article.
93 results