Works by He, Weimin

Results: 70
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    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.

    Published in:
    JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
    By:
    • Yaping Yang;
    • Muzny, Donna M.;
    • Fan Xia;
    • Zhiyv Niu;
    • Person, Richard;
    • Yan Ding;
    • Ward, Patricia;
    • Braxton, Alicia;
    • Min Wang;
    • Buhay, Christian;
    • Veeraraghavan, Narayanan;
    • Hawes, Alicia;
    • Chiang, Theodore;
    • Leduc, Magalie;
    • Beuten, Joke;
    • Jing Zhang;
    • Weimin He;
    • Scull, Jennifer;
    • Willis, Alecia;
    • Landsverk, Megan
    Publication type:
    Article
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    Muscle-specific Pparg deletion causes insulin resistance.

    Published in:
    Nature Medicine, 2003, v. 9, n. 12, p. 1491, doi. 10.1038/nm956
    By:
    • Hevener, Andrea L.;
    • He, Weimin;
    • Barak, Yaacov;
    • Le, Jamie;
    • Bandyopadhyay, Gautam;
    • Olson, Peter;
    • Wilkes, Jason;
    • Evans, Ronald M.;
    • Olefsky, Jerrold
    Publication type:
    Article
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    Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

    Published in:
    Nature Communications, 2016, v. 7, n. 2, p. 10713, doi. 10.1038/ncomms10713
    By:
    • Gomez-Ospina, Natalia;
    • Potter, Carol J.;
    • Xiao, Rui;
    • Manickam, Kandamurugu;
    • Kim, Mi-Sun;
    • Kim, Kang Ho;
    • Shneider, Benjamin L.;
    • Picarsic, Jennifer L.;
    • Jacobson, Theodora A.;
    • Zhang, Jing;
    • He, Weimin;
    • Liu, Pengfei;
    • Knisely, A. S.;
    • Finegold, Milton J.;
    • Muzny, Donna M.;
    • Boerwinkle, Eric;
    • Lupski, James R.;
    • Plon, Sharon E.;
    • Gibbs, Richard A.;
    • Eng, Christine M.
    Publication type:
    Article
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    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0639-5
    By:
    • Dharmadhikari, Avinash V.;
    • Ghosh, Rajarshi;
    • Yuan, Bo;
    • Liu, Pengfei;
    • Dai, Hongzheng;
    • Al Masri, Sami;
    • Scull, Jennifer;
    • Posey, Jennifer E.;
    • Jiang, Allen H.;
    • He, Weimin;
    • Vetrini, Francesco;
    • Braxton, Alicia A.;
    • Ward, Patricia;
    • Chiang, Theodore;
    • Qu, Chunjing;
    • Gu, Shen;
    • Shaw, Chad A.;
    • Smith, Janice L.;
    • Lalani, Seema;
    • Stankiewicz, Pawel
    Publication type:
    Article
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    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
    By:
    • Normand, Elizabeth A.;
    • Braxton, Alicia;
    • Nassef, Salma;
    • Ward, Patricia A.;
    • Vetrini, Francesco;
    • He, Weimin;
    • Patel, Vipulkumar;
    • Qu, Chunjing;
    • Westerfield, Lauren E.;
    • Stover, Samantha;
    • Dharmadhikari, Avinash V.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Dai, Hongzheng;
    • Meng, Linyan;
    • Wang, Xia;
    • Xiao, Rui;
    • Liu, Pengfei;
    • Bi, Weimin;
    • Xia, Fan
    Publication type:
    Article
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    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
    By:
    • Zhang, Jing;
    • Gambin, Tomasz;
    • Yuan, Bo;
    • Roeder, Elizabeth;
    • Bonneau, Dominique;
    • Denommé-Pichon, Anne-Sophie;
    • Zhu, Wenmiao;
    • He, Weimin;
    • Vetrini, Francesco;
    • Ward, Patricia;
    • Cheung, Sau;
    • Bi, Weimin;
    • Eng, Christine;
    • Lupski, James;
    • Yang, Yaping;
    • Patel, Ankita;
    • Lalani, Seema;
    • Xia, Fan;
    • Stankiewicz, Paweł;
    • Szafranski, Przemyslaw
    Publication type:
    Article
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    De novo mutations in beta- catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

    Published in:
    Human Genetics, 2015, v. 134, n. 1, p. 97, doi. 10.1007/s00439-014-1498-1
    By:
    • Kuechler, Alma;
    • Willemsen, Marjolein;
    • Albrecht, Beate;
    • Bacino, Carlos;
    • Bartholomew, Dennis;
    • Bokhoven, Hans;
    • den Boogaard, Marie;
    • Bramswig, Nuria;
    • Büttner, Christian;
    • Cremer, Kirsten;
    • Czeschik, Johanna;
    • Engels, Hartmut;
    • Gassen, Koen;
    • Graf, Elisabeth;
    • Haelst, Mieke;
    • He, Weimin;
    • Hogue, Jacob;
    • Kempers, Marlies;
    • Koolen, David;
    • Monroe, Glen
    Publication type:
    Article
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    Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
    By:
    • Leduc, Magalie S.;
    • Chao, Hsiao‐Tuan;
    • Qu, Chunjing;
    • Walkiewicz, Magdalena;
    • Xiao, Rui;
    • Magoulas, Pilar;
    • Pan, Shujuan;
    • Beuten, Joke;
    • He, Weimin;
    • Bernstein, Jonathan A.;
    • Schaaf, Christian P.;
    • Scaglia, Fernando;
    • Eng, Christine M.;
    • Yang, Yaping
    Publication type:
    Article