Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 8

Results: 5
    1
    2

    Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

    Published in:
    Human Genetics, 2024, v. 143, n. 8, p. 995, doi. 10.1007/s00439-024-02691-0
    By:
    • Padigepati, Samskruthi Reddy;
    • Stafford, David A.;
    • Tan, Christopher A.;
    • Silvis, Melanie R.;
    • Jamieson, Kirsty;
    • Keyser, Andrew;
    • Nunez, Paola Alejandra Correa;
    • Nicoludis, John M.;
    • Manders, Toby;
    • Fresard, Laure;
    • Kobayashi, Yuya;
    • Araya, Carlos L.;
    • Aradhya, Swaroop;
    • Johnson, Britt;
    • Nykamp, Keith;
    • Reuter, Jason A.
    Publication type:
    Article
    3
    4

    Automatized detection of uniparental disomies in a large cohort.

    Published in:
    Human Genetics, 2024, v. 143, n. 8, p. 955, doi. 10.1007/s00439-024-02687-w
    By:
    • Moch, Johanna;
    • Radtke, Maximilian;
    • Liehr, Thomas;
    • Eggermann, Thomas;
    • Gilissen, Christian;
    • Pfundt, Rolph;
    • Astuti, Galuh;
    • Hentschel, Julia;
    • Schumann, Isabell
    Publication type:
    Article
    5