Showing 1 - 3 results of 3 for search 'Luke O’Gorman', query time: 0.02s Refine Results
  1. 1
    Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

    Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. by Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs

    Published 2023-08-01
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  2. 2
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing by Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen

    Published 2023-05-01
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  3. 3
    The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

    The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner by Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto

    Published 2022-11-01
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