Searching journal content for articles similar to Cheung and Ewens 16 (8): 973.

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  1. Research: Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
    • Konstantin Popadin,
    • Stephan Peischl,
    • Marco Garieri,
    • M. Reza Sailani,
    • Audrey Letourneau,
    • Federico Santoni,
    • Samuel W. Lukowski,
    • Georgii A. Bazykin,
    • Sergey Nikolaev,
    • Diogo Meyer,
    • Laurent Excoffier,
    • Alexandre Reymond,
    • and Stylianos E. Antonarakis
    Genome Res. January 2018 28: 1-10; Published in Advance December 13, 2017, doi:10.1101/gr.228411.117
    ...carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res 16: 973–979. ↵Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, et al. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43: 838...
  2. Research: Natural genetic variation caused by small insertions and deletions in the human genome
    • Ryan E. Mills,
    • W. Stephen Pittard,
    • Julienne M. Mullaney,
    • Umar Farooq,
    • Todd H. Creasy,
    • Anup A. Mahurkar,
    • David M. Kemeza,
    • Daniel S. Strassler,
    • Chris P. Ponting,
    • Caleb Webber,
    • and Scott E. Devine
    Genome Res. June 2011 21: 830-839; Published in Advance April 1, 2011, doi:10.1101/gr.115907.110
    ...(Nijmegen Breakage Syndrome; OMIM: 251260) (Dumon-Jones et al. 2003; Resnick et al. 2003; Tanzanella et al. 2003), and TCOF1 (Treacher Collins syndrome; OMIM: 154500) (Supplemental Table 6; Dixon et al. 2000;Marzalek et al. 2003; Shoo et al. 2004). These analyses indicate that at least some of our INDELs...
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