Works matching DE "WHOLE genome sequencing"


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    Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524
    By:
    • Männistö, Jonna M E;
    • Hopkins, Jasmin J;
    • Hewat, Thomas I;
    • Nasser, Fatima;
    • Burrage, Joseph;
    • Dastamani, Antonia;
    • Mirante, Alice;
    • Murphy, Nuala;
    • Rzasa, Jessica;
    • Kerkhof, Jennifer;
    • Relator, Raissa;
    • Johnson, Matthew B;
    • Laver, Thomas W;
    • Weymouth, Luke;
    • Houghton, Jayne A L;
    • Wakeling, Matthew N;
    • Sadikovic, Bekim;
    • Dempster, Emma L;
    • Flanagan, Sarah E
    Publication type:
    Article
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    Out of Africa: The genomic footprints of Vietnamese Robusta coffee.

    Published in:
    PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0324988
    By:
    • Vi, Tram;
    • Le, Thi Nhu;
    • Cubry, Philippe;
    • Phan, Viet Ha;
    • Dinh, Thi Tieu Oanh;
    • Tran, Thi Bich Ngoc;
    • Nguyen, Van Toan;
    • Millet, Claude Patrick;
    • Kambale, Jean-Léon;
    • Karine, Gba Kossia Manzan;
    • Musoli, Pascal;
    • Sumirat, Ucu;
    • Mahinga, Jose Cassule;
    • Stoffelen, Piet;
    • Zhang, Dapeng;
    • Marraccini, Pierre;
    • Vigouroux, Yves;
    • Khong, Ngan Giang;
    • Poncet, Valerie
    Publication type:
    Article
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    A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions †.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4532, doi. 10.3390/ijms26104532
    By:
    • Tan, Vivienne J.;
    • Liang, Ying;
    • Tan, Arnold S.;
    • Wong, Simin;
    • Asherah, Nur;
    • Chua, Pengyian;
    • Lee, Caroline G.;
    • Choolani, Mahesh A.;
    • Dang, Truong;
    • Chong, Samuel S.
    Publication type:
    Article
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    Maternal genetic origin of Chao Lay coastal maritime populations from Thailand.

    Published in:
    BMC Biology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12915-025-02252-5
    By:
    • Kutanan, Wibhu;
    • Woravatin, Wipada;
    • Srikummool, Metawee;
    • Suwannapoom, Chatmongkon;
    • Hübner, Alexander;
    • Kampuansai, Jatupol;
    • Khaokiew, Chawalit;
    • Schaschl, Helmut;
    • Översti, Sanni;
    • La, Duy Duc;
    • Arias, Leonardo;
    • Stoneking, Mark
    Publication type:
    Article
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    Impact of High‐Titer Convalescent Plasma on Clinical and Virologic Outcomes Among Veterans Hospitalized With SARS‐CoV‐2 Infection: VA CoronavirUs Research and Efficacy Studies‐1 (VA CURES‐1).

    Published in:
    Journal of Medical Virology, 2025, v. 97, n. 5, p. 1, doi. 10.1002/jmv.70349
    By:
    • Janoff, Edward N.;
    • Shih, Mei‐Chiung;
    • Donskey, Curtis;
    • Belitskaya‐Levy, Ilana;
    • Brau, Norbert;
    • Rodriguez‐Barradas, Maria C.;
    • Chan, Ernest;
    • Zimmerman, Peter;
    • Miller, Elliott K.;
    • Vaughan, Leroy B.;
    • Daniel Markley, J.;
    • Goldberg, Alexa M.;
    • Sriram, Peruvemba;
    • Anzueto, Antonio;
    • Uyeda, Lauren;
    • Zehm, Lisa;
    • Wills, Ashlea;
    • Hutchinson, Caitlin;
    • Jones, Lucas;
    • Peterson, Dianne
    Publication type:
    Article
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