Works matching AU Jones, David A.


Results: 3081
    1

    Book reviews.

    Published in:
    1996
    By:
    • Wang, Qingxin Ken;
    • Jianli, Huang;
    • Jones, David Martin;
    • Heng, Teow See;
    • Straughan, Paulin Tay;
    • Jones, David Seth;
    • Harman, Elizabeth;
    • Suryadinata, Leo;
    • Saez, Lawrence
    Publication type:
    Book Review
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    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

    Published in:
    2018
    By:
    • Morís, Germán;
    • Wood, Libby;
    • FernáNdez‐Torrón, Roberto;
    • González Coraspe, José Andrés;
    • Turner, Chris;
    • Hilton‐Jones, David;
    • Norwood, Fiona;
    • Willis, Tracey;
    • Parton, Matt;
    • Rogers, Mark;
    • Hammans, Simon;
    • Roberts, Mark;
    • Househam, Elizabeth;
    • Williams, Maggie;
    • Lochmüller, Hanns;
    • Evangelista, Teresinha;
    • FernáNdez-Torrón, Roberto;
    • Hilton-Jones, David
    Publication type:
    journal article
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    Nuclear autumn: Daedalus.

    Published in:
    Nature, 1999, v. 401, n. 6756, p. 871, doi. 10.1038/44747
    By:
    • Jones, David
    Publication type:
    Article
    21

    Go with the flow: Daedalus.

    Published in:
    Nature, 1999, v. 401, n. 6754, p. 660, doi. 10.1038/44312
    By:
    • Jones, David
    Publication type:
    Article
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    Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016.

    Published in:
    Human Mutation, 2019, v. 40, n. 9, p. 1519, doi. 10.1002/humu.23875
    By:
    • Clark, Wyatt T.;
    • Kasak, Laura;
    • Bakolitsa, Constantina;
    • Hu, Zhiqiang;
    • Andreoletti, Gaia;
    • Babbi, Giulia;
    • Bromberg, Yana;
    • Casadio, Rita;
    • Dunbrack, Roland;
    • Folkman, Lukas;
    • Ford, Colby T.;
    • Jones, David;
    • Katsonis, Panagiotis;
    • Kundu, Kunal;
    • Lichtarge, Olivier;
    • Martelli, Pier L.;
    • Mooney, Sean D.;
    • Nodzak, Conor;
    • Pal, Lipika R.;
    • Radivojac, Predrag
    Publication type:
    Article
    43

    Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

    Published in:
    Human Mutation, 2017, v. 38, n. 9, p. 1182, doi. 10.1002/humu.23280
    By:
    • Daneshjou, Roxana;
    • Wang, Yanran;
    • Bromberg, Yana;
    • Bovo, Samuele;
    • Martelli, Pier L;
    • Babbi, Giulia;
    • Lena, Pietro Di;
    • Casadio, Rita;
    • Edwards, Matthew;
    • Gifford, David;
    • Jones, David T;
    • Sundaram, Laksshman;
    • Bhat, Rajendra Rana;
    • Li, Xiaolin;
    • Pal, Lipika R.;
    • Kundu, Kunal;
    • Yin, Yizhou;
    • Moult, John;
    • Jiang, Yuxiang;
    • Pejaver, Vikas
    Publication type:
    Article
    44

    Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4.

    Published in:
    Human Mutation, 2017, v. 38, n. 9, p. 1123, doi. 10.1002/humu.23222
    By:
    • Xu, Qifang;
    • Tang, Qingling;
    • Katsonis, Panagiotis;
    • Lichtarge, Olivier;
    • Jones, David;
    • Bovo, Samuele;
    • Babbi, Giulia;
    • Martelli, Pier L.;
    • Casadio, Rita;
    • Lee, Gyu Rie;
    • Seok, Chaok;
    • Fenton, Aron W.;
    • Dunbrack, Roland L.
    Publication type:
    Article
    45

    Lessons from the CAGI-4 Hopkins clinical panel challenge.

    Published in:
    Human Mutation, 2017, v. 38, n. 9, p. 1155, doi. 10.1002/humu.23225
    By:
    • Chandonia, John‐Marc;
    • Adhikari, Aashish;
    • Carraro, Marco;
    • Chhibber, Aparna;
    • Cutting, Garry R.;
    • Fu, Yao;
    • Gasparini, Alessandra;
    • Jones, David T.;
    • Kramer, Andreas;
    • Kundu, Kunal;
    • Lam, Hugo Y. K.;
    • Leonardi, Emanuela;
    • Moult, John;
    • Pal, Lipika R.;
    • Searls, David B.;
    • Shah, Sohela;
    • Sunyaev, Shamil;
    • Tosatto, Silvio C. E.;
    • Yin, Yizhou;
    • Buckley, Bethany A.
    Publication type:
    Article
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    Cover Image, Volume 38, Issue 9.

    Published in:
    Human Mutation, 2017, v. 38, n. 9, p. i, doi. 10.1002/humu.23314
    By:
    • Xu, Qifang;
    • Tang, Qingling;
    • Katsonis, Panagiotis;
    • Lichtarge, Olivier;
    • Jones, David;
    • Bovo, Samuele;
    • Babbi, Giulia;
    • Martelli, Pier L.;
    • Casadio, Rita;
    • Lee, Gyu Rie;
    • Seok, Chaok;
    • Fenton, Aron W.;
    • Dunbrack, Roland L.
    Publication type:
    Article
    48

    Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
    By:
    • Lamont, Phillipa J.;
    • Wallefeld, William;
    • Hilton‐Jones, David;
    • Udd, Bjarne;
    • Argov, Zohar;
    • Barboi, Alexandru C.;
    • Bonneman, Carsten;
    • Boycott, Kym M.;
    • Bushby, Kate;
    • Connolly, Anne M.;
    • Davies, Nicholas;
    • Beggs, Alan H.;
    • Cox, Gerald F.;
    • Dastgir, Jahannaz;
    • DeChene, Elizabeth T.;
    • Gooding, Rebecca;
    • Jungbluth, Heinz;
    • Muelas, Nuria;
    • Palmio, Johanna;
    • Penttilä, Sini
    Publication type:
    Article
    49

    ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1111, doi. 10.1002/humu.22342
    By:
    • Sarkozy, Anna;
    • Hicks, Debbie;
    • Hudson, Judith;
    • Laval, Steve H.;
    • Barresi, Rita;
    • Hilton‐Jones, David;
    • Deschauer, Marcus;
    • Harris, Elizabeth;
    • Rufibach, Laura;
    • Hwang, Esther;
    • Bashir, Rumaisa;
    • Walter, Maggie C.;
    • Krause, Sabine;
    • Bergh, Peter;
    • Illa, Isabel;
    • Pénisson‐Besnier, Isabelle;
    • Waele, Liesbeth;
    • Turnbull, Doug;
    • Guglieri, Michela;
    • Schrank, Bertold
    Publication type:
    Article
    50

    Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1310, doi. 10.1002/humu.22136
    By:
    • Klein, Andrea;
    • Lillis, Suzanne;
    • Munteanu, Iulia;
    • Scoto, Mariacristina;
    • Zhou, Haiyan;
    • Quinlivan, Ros;
    • Straub, Volker;
    • Manzur, Adnan Y.;
    • Roper, Helen;
    • Jeannet, Pierre-Yves;
    • Rakowicz, Wojtek;
    • Jones, David Hilton;
    • Jensen, Uffe Birk;
    • Wraige, Elizabeth;
    • Trump, Natalie;
    • Schara, Ulrike;
    • Lochmuller, Hanns;
    • Sarkozy, Anna;
    • Kingston, Helen;
    • Norwood, Fiona
    Publication type:
    Article