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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: schilling kd. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Nuclear deformation and neutron excess as competing effects for dipole strength in the pygmy region.
Massarczyk R, Schwengner R, Dönau F, Frauendorf S, Anders M, Bemmerer D, Beyer R, Bhatia C, Birgersson E, Butterling M, Elekes Z, Ferrari A, Gooden ME, Hannaske R, Junghans AR, Kempe M, Kelley JH, Kögler T, Matic A, Menzel ML, Müller S, Reinhardt TP, Röder M, Rusev G, Schilling KD, Schmidt K, Schramm G, Tonchev AP, Tornow W, Wagner A. Massarczyk R, et al. Among authors: schilling kd. Phys Rev Lett. 2014 Feb 21;112(7):072501. doi: 10.1103/PhysRevLett.112.072501. Epub 2014 Feb 18. Phys Rev Lett. 2014. PMID: 24579591
Genome-wide mapping of furfural tolerance genes in Escherichia coli.
Glebes TY, Sandoval NR, Reeder PJ, Schilling KD, Zhang M, Gill RT. Glebes TY, et al. Among authors: schilling kd. PLoS One. 2014 Jan 28;9(1):e87540. doi: 10.1371/journal.pone.0087540. eCollection 2014. PLoS One. 2014. PMID: 24489935 Free PMC article.
Decay of 1+ states as a new probe of the structure of 0+ shape isomers.
Rusev G, Schwengner R, Dönau F, Frauendorf S, Käubler L, Kostov LK, Mallion S, Schilling KD, Wagner A, Grosse E, von Garrel H, Kneissl U, Kohstall C, Kreutz M, Pitz HH, Scheck M, Stedile F, von Brentano P, Jolie J, Linnemann A, Pietralla N, Werner V. Rusev G, et al. Among authors: schilling kd. Phys Rev Lett. 2005 Aug 5;95(6):062501. doi: 10.1103/PhysRevLett.95.062501. Epub 2005 Aug 5. Phys Rev Lett. 2005. PMID: 16090942