Works by Eberhardt, Ruth Y.

Results: 17
    1

    Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1580, doi. 10.1210/clinem/dgad373
    By:
    • Duckett, Katie;
    • Williamson, Alice;
    • Kincaid, John W. R.;
    • Rainbow, Kara;
    • Corbin, Laura J.;
    • Martin, Hilary C.;
    • Eberhardt, Ruth Y.;
    • Qin Qin Huang;
    • Hurles, Matthew E.;
    • Wen He;
    • Brauner, Raja;
    • Delaney, Angela;
    • Dunkel, Leo;
    • Grinspon, Romina P.;
    • Hall, Janet E.;
    • Hirschhorn, Joel N.;
    • Howard, Sasha R.;
    • Latronico, Ana C.;
    • Jorge, Alexander A. L.;
    • McElreavey, Ken
    Publication type:
    Article
    2
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    5

    LUD, a new protein domain associated with lactate utilization.

    Published in:
    BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-341
    By:
    • Hwang, William C.;
    • Bakolitsa, Constantina;
    • Punta, Marco;
    • Coggill, Penelope C.;
    • Bateman, Alex;
    • Axelrod, Herbert L.;
    • Rawlings, Neil D.;
    • Sedova, Mayya;
    • Peterson, Scott N.;
    • Eberhardt, Ruth Y.;
    • Aravind, L.;
    • Pascual, Jaime;
    • Godzik, Adam
    Publication type:
    Article
    6
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    8

    The Pfam protein families database: towards a more sustainable future.

    Published in:
    Nucleic Acids Research, 2016, v. 44, p. D279, doi. 10.1093/nar/gkv1344
    By:
    • Finn, Robert D.;
    • Coggill, Penelope;
    • Eberhardt, Ruth Y.;
    • Eddy, Sean R.;
    • Mistry, Jaina;
    • Mitchell, Alex L.;
    • Potter, Simon C.;
    • Punta, Marco;
    • Qureshi, Matloob;
    • Sangrador-Vegas, Amaia;
    • Salazar, Gustavo A.;
    • Tate, John;
    • Bateman, Alex
    Publication type:
    Article
    9

    Rfam 12.0: updates to the RNA families database.

    Published in:
    Nucleic Acids Research, 2015, v. 43, n. D1, p. D130, doi. 10.1093/nar/gku1063
    By:
    • Nawrocki, Eric P.;
    • Burge, Sarah W.;
    • Bateman, Alex;
    • Daub, Jennifer;
    • Eberhardt, Ruth Y.;
    • Eddy, Sean R.;
    • Floden, Evan W.;
    • Gardner, Paul P.;
    • Jones, Thomas A.;
    • Tate, John;
    • Finn, Robert D.
    Publication type:
    Article
    10

    Pfam: the protein families database.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. D1, p. D222, doi. 10.1093/nar/gkt1223
    By:
    • Finn, Robert D.;
    • Bateman, Alex;
    • Clements, Jody;
    • Coggill, Penelope;
    • Eberhardt, Ruth Y.;
    • Eddy, Sean R.;
    • Heger, Andreas;
    • Hetherington, Kirstie;
    • Holm, Liisa;
    • Mistry, Jaina;
    • Sonnhammer, Erik L. L.;
    • Tate, John;
    • Punta, Marco
    Publication type:
    Article
    11

    The Pfam protein families database.

    Published in:
    Nucleic Acids Research, 2012, p. D290, doi. 10.1093/nar/gkr1065
    By:
    • Punta, Marco;
    • Coggill, Penny C.;
    • Eberhardt, Ruth Y.;
    • Mistry, Jaina;
    • Tate, John;
    • Boursnell, Chris;
    • Pang, Ningze;
    • Forslund, Kristoffer;
    • Ceric, Goran;
    • Clements, Jody;
    • Heger, Andreas;
    • Holm, Liisa;
    • Sonnhammer, Erik L. L.;
    • Eddy, Sean R.;
    • Bateman, Alex;
    • Finn, Robert D.
    Publication type:
    Article
    12
    13

    The challenge of increasing Pfam coverage of the human proteome.

    Published in:
    Database: The Journal of Biological Databases & Curation, 2013, v. 2013, p. 1, doi. 10.1093/database/bat023
    By:
    • Mistry, Jaina;
    • Coggill, Penny;
    • Eberhardt, Ruth Y.;
    • Deiana, Antonio;
    • Giansanti, Andrea;
    • Finn, Robert D.;
    • Bateman, Alex;
    • Punta, Marco
    Publication type:
    Article
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    The contribution of X-linked coding variation to severe developmental disorders.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20852-3
    By:
    • Martin, Hilary C.;
    • Gardner, Eugene J.;
    • Samocha, Kaitlin E.;
    • Kaplanis, Joanna;
    • Akawi, Nadia;
    • Sifrim, Alejandro;
    • Eberhardt, Ruth Y.;
    • Tavares, Ana Lisa Taylor;
    • Neville, Matthew D. C.;
    • Niemi, Mari E. K.;
    • Gallone, Giuseppe;
    • McRae, Jeremy;
    • Deciphering Developmental Disorders Study;
    • Borras, Silvia;
    • Clark, Caroline;
    • Dean, John;
    • Miedzybrodzka, Zosia;
    • Ross, Alison;
    • Tennant, Stephen;
    • Dabir, Tabib
    Publication type:
    Article
    17