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New insights into the performance of human whole-exome capture platforms.
Meienberg J, Zerjavic K, Keller I, Okoniewski M, Patrignani A, Ludin K, Xu Z, Steinmann B, Carrel T, Röthlisberger B, Schlapbach R, Bruggmann R, Matyas G. Meienberg J, et al. Among authors: rothlisberger b. Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27. Nucleic Acids Res. 2015. PMID: 25820422 Free PMC article.
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Ellison G, Ahdesmäki M, Luke S, Waring PM, Wallace A, Wright R, Röthlisberger B, Ludin K, Merkelbach-Bruse S, Heydt C, Ligtenberg MJL, Mensenkamp AR, de Castro DG, Jones T, Vivancos A, Kondrashova O, Pauwels P, Weyn C, Hahnen E, Hauke J, Soong R, Lai Z, Dougherty B, Carr TH, Johnson J, Mills J, Barrett JC. Ellison G, et al. Among authors: rothlisberger b. Hum Mutat. 2018 Mar;39(3):394-405. doi: 10.1002/humu.23375. Epub 2017 Dec 28. Hum Mutat. 2018. PMID: 29215764 Free PMC article.
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V. Lindert U, et al. Among authors: rothlisberger b. Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920. Nat Commun. 2016. PMID: 27380894 Free PMC article.
TRIB1 overexpression in acute myeloid leukemia.
Röthlisberger B, Heizmann M, Bargetzi MJ, Huber AR. Röthlisberger B, et al. Cancer Genet Cytogenet. 2007 Jul 1;176(1):58-60. doi: 10.1016/j.cancergencyto.2007.03.003. Cancer Genet Cytogenet. 2007. PMID: 17574965
55 results