Works matching AU Gold, Nina B.

Results: 17
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    USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

    Published in:
    Life Science Alliance, 2024, v. 7, n. 3, p. 1, doi. 10.26508/lsa.202302258
    By:
    • Koch, Intisar;
    • Slovik, Maya;
    • Yuling Zhang;
    • Bingyu Liu;
    • Rennie, Martin;
    • Konz, Emily;
    • Cogne, Benjamin;
    • Daana, Muhannad;
    • Davids, Laura;
    • Diets, Illja J.;
    • Gold, Nina B.;
    • Holtz, Alexander M.;
    • Isidor, Bertrand;
    • Mor-Shaked, Hagar;
    • Fresneda, Juanita Neira;
    • Niederhoffer, Karen Y.;
    • Nizon, Mathilde;
    • Pfundt, Rolph;
    • Simon, M. E. H.;
    • Stegmann, A. P. A.
    Publication type:
    Article
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    Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 6, p. 571, doi. 10.1111/cge.13851
    By:
    • Gold, Nina B.;
    • Li, Dong;
    • Chassevent, Anna;
    • Kaiser, Frank J.;
    • Parenti, Ilaria;
    • Strom, Tim M.;
    • Ramos, Feliciano J.;
    • Puisac, Beatriz;
    • Pié, Juan;
    • McWalter, Kirsty;
    • Guillen Sacoto, Maria J.;
    • Cui, Hong;
    • Saadeh‐Haddad, Reem;
    • Smith‐Hicks, Constance;
    • Rodan, Lance;
    • Blair, Edward;
    • Bhoj, Elizabeth
    Publication type:
    Article
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    Delayed diagnosis and racial bias in children with genetic conditions.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1118, doi. 10.1002/ajmg.a.62626
    By:
    • Omorodion, Jacklyn;
    • Dowsett, Leah;
    • Clark, Robin D.;
    • Fraser, Jamie;
    • Abu‐El‐Haija, Aya;
    • Strong, Alanna;
    • Wojcik, Monica H.;
    • Bryant, Allison S.;
    • Gold, Nina B.
    Publication type:
    Article
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    Are we prepared to deliver gene‐targeted therapies for rare diseases?

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 1, p. 7, doi. 10.1002/ajmg.c.32029
    By:
    • Yu, Timothy W.;
    • Kingsmore, Stephen F.;
    • Green, Robert C.;
    • MacKenzie, Tippi;
    • Wasserstein, Melissa;
    • Caggana, Michele;
    • Gold, Nina B.;
    • Kennedy, Annie;
    • Kishnani, Priya S.;
    • Might, Matthew;
    • Brooks, Phillip J.;
    • Morris, Jill A.;
    • Parisi, Melissa A.;
    • Urv, Tiina K.
    Publication type:
    Article
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    Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

    Published in:
    JAMA Network Open, 2023, v. 6, n. 5, p. e2312231, doi. 10.1001/jamanetworkopen.2023.12231
    By:
    • Gold, Nina B.;
    • Adelson, Sophia M.;
    • Shah, Nidhi;
    • Williams, Shardae;
    • Bick, Sarah L.;
    • Zoltick, Emilie S.;
    • Gold, Jessica I.;
    • Strong, Alanna;
    • Ganetzky, Rebecca;
    • Roberts, Amy E.;
    • Walker, Melissa;
    • Holtz, Alexander M.;
    • Sankaran, Vijay G.;
    • Delmonte, Ottavia;
    • Tan, Weizhen;
    • Holm, Ingrid A.;
    • Thiagarajah, Jay R.;
    • Kamihara, Junne;
    • Comander, Jason;
    • Place, Emily
    Publication type:
    Article
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