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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: niederacher d. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Efficacy of Lapatinib in Patients with HER2-Negative Metastatic Breast Cancer and HER2-Positive Circulating Tumor Cells-The DETECT III Clinical Trial.
Fehm T, Mueller V, Banys-Paluchowski M, Fasching PA, Friedl TWP, Hartkopf A, Huober J, Loehberg C, Rack B, Riethdorf S, Schneeweiss A, Wallwiener D, Meier-Stiegen F, Krawczyk N, Jaeger B, Reinhardt F, Hoffmann O, Mueller L, Wimberger P, Ruckhaeberle E, Blohmer JU, Cieslik JP, Franken A, Niederacher D, Neubauer H, Pantel K, Janni W; DETECT Study Group. Fehm T, et al. Among authors: niederacher d. Clin Chem. 2024 Jan 4;70(1):307-318. doi: 10.1093/clinchem/hvad144. Clin Chem. 2024. PMID: 38175595 Clinical Trial.
Ultra-sensitive CTC-based liquid biopsy for pancreatic cancer enabled by large blood volume analysis.
Stoecklein NH, Fluegen G, Guglielmi R, Neves RPL, Hackert T, Birgin E, Cieslik SA, Sudarsanam M, Driemel C, van Dalum G, Franken A, Niederacher D, Neubauer H, Fehm T, Rox JM, Böhme P, Häberle L, Göring W, Esposito I, Topp SA, Coumans FAW, Weitz J, Knoefel WT, Fischer JC, Bork U, Rahbari NN. Stoecklein NH, et al. Among authors: niederacher d. Mol Cancer. 2023 Nov 13;22(1):181. doi: 10.1186/s12943-023-01880-1. Mol Cancer. 2023. PMID: 37957606 Free PMC article.
Whole Exome Analysis to Select Targeted Therapies for Patients with Metastatic Breast Cancer - A Feasibility Study.
Jaeger BAS, Krawczyk N, Japp AS, Honisch E, Köhrer K, Scheuring S, Petzsch P, Neubauer H, Volkmer AK, Esposito I, Ruckhäberle E, Niederacher D, Fehm T. Jaeger BAS, et al. Among authors: niederacher d. Geburtshilfe Frauenheilkd. 2023 Sep 12;83(9):1138-1147. doi: 10.1055/a-2150-9440. eCollection 2023 Sep. Geburtshilfe Frauenheilkd. 2023. PMID: 37706056 Free PMC article.
195 results