Searching journal content for articles similar to Sailani et al. 23 (9): 1410.

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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
    ...miscarried. Nevertheless, some aneuploid individuals survive despite the strong genetic insult. Here, we investigate if the survival probability of aneuploid fetuses is affected by the -wide burden of slightly deleterious variants. We analyzed two cohorts of live-born Down syndrome individuals (388 genotyped...
  2. Method: Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing
    • Brock A. Peters,
    • Bahram G. Kermani,
    • Oleg Alferov,
    • Misha R. Agarwal,
    • Mark A. McElwain,
    • Natali Gulbahce,
    • Daniel M. Hayden,
    • Y. Tom Tang,
    • Rebecca Yu Zhang,
    • Rick Tearle,
    • Birgit Crain,
    • Renata Prates,
    • Alan Berkeley,
    • Santiago Munné,
    • and Radoje Drmanac
    Genome Res. March 2015 25: 426-434; Published in Advance February 11, 2015, doi:10.1101/gr.181255.114
    ...and detectable CNVs using cost-effective conventional PGD techniques would likely be employed prior to WGS to remove ;50% of embryos analyzed, further decreasing the cost of this type of analysis by only focusing on two to three remaining embryos without gross genetic defects. This type of two-step PGD test...
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  3. Research: Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
    • Przemyslaw Szafranski,
    • Avinash V. Dharmadhikari,
    • Erwin Brosens,
    • Priyatansh Gurha,
    • Katarzyna E. Kołodziejska,
    • Ou Zhishuo,
    • Piotr Dittwald,
    • Tadeusz Majewski,
    • K. Naga Mohan,
    • Bo Chen,
    • Richard E. Person,
    • Dick Tibboel,
    • Annelies de Klein,
    • Jason Pinner,
    • Maya Chopra,
    • Girvan Malcolm,
    • Gregory Peters,
    • Susan Arbuckle,
    • Sixto F. Guiang III,
    • Virginia A. Hustead,
    • Jose Jessurun,
    • Russel Hirsch,
    • David P. Witte,
    • Isabelle Maystadt,
    • Neil Sebire,
    • Richard Fisher,
    • Claire Langston,
    • Partha Sen,
    • and Paweł Stankiewicz
    Genome Res. January 2013 23: 23-33; Published in Advance October 3, 2012, doi:10.1101/gr.141887.112
    ...downstream from FOXG1 have been reported in patients with a congenital variant Rett syndrome (OMIM 613454) (Kortu¨m et al. 2011; Ellaway et al. 2012), suggesting that also other FOX genes may be regulated by long-range chromatin cis-interactions. Recently, Guttman et al. (2011) successfully knocked down...
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