Found: 19

Select item for more details and to access through your institution.

  • HAPPY?

    Published in:
    2018
    By:
    • Fawcett, Katherine
    Publication type:
    Short Story

  • De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

    Published in:
    2018
    By:
    • Fry, Andrew E.;
    • Fawcett, Katherine A.;
    • Zelnik, Nathanel;
    • Hongjie Yuan;
    • Thompson, Belinda A. N.;
    • Shemer-Meiri, Lilach;
    • Cushion, Thomas D.;
    • Mugalaasi, Hood;
    • Sims, David;
    • Stoodley, Neil;
    • Seo-Kyung Chung;
    • Rees, Mark I.;
    • Patel, Chirag V.;
    • Brueton, Louise A.;
    • Layet, Valérie;
    • Giuliano, Fabienne;
    • Kerr, Michael P.;
    • Banne, Ehud;
    • Meiner, Vardiella;
    • Lerman-Sagie, Tally
    Publication type:
    journal article

  • Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    2013
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E;
    • Davis, Mary;
    • Macdonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P;
    • Medlar, Alan J;
    • Stanescu, Horia C;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W;
    • Houlden, Henry
    Publication type:
    journal article

  • Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    Annals of Neurology, 2013, v. 73, n. 4, p. 546, doi. 10.1002/ana.23832
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E.;
    • Davis, Mary;
    • MacDonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P.;
    • Medlar, Alan J.;
    • Stanescu, Horia C.;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W.;
    • Houlden, Henry
    Publication type:
    Article

  • Detailed Investigation of the Role of Common and Low-Frequency WFS1 Variants in Type 2 Diabetes Risk.

    Published in:
    Diabetes, 2010, v. 59, n. 3, p. 741, doi. 10.2337/db09-0920
    By:
    • Fawcett, Katherine A.;
    • Wheeler, Eleanor;
    • Morris, Andrew P.;
    • Ricketts, Sally L.;
    • Hallmans, Göran;
    • Rolandsson, Olov;
    • Daly, Allan;
    • Wasson, Jon;
    • Permutt, Alan;
    • Hattersley, Andrew T.;
    • Glaser, Benjamin;
    • Franks, Paul W.;
    • McCarthy, Mark I.;
    • Wareham, Nicholas J.;
    • Sandhu, Manjinder S.;
    • Barrosol, Inês
    Publication type:
    Article

  • Evaluating the Role of LPIN1 Variation in Insulin Resistance, Body Weight, and Human Lipodystrophy in U.K. Populations.

    Published in:
    Diabetes, 2008, v. 57, n. 9, p. 2527, doi. 10.2337/db08-0422
    By:
    • Fawcett, Katherine A.;
    • Grimsey, Neil;
    • Loos, Ruth J. F.;
    • Wheeler, Eleanor;
    • Daly, Allan;
    • Soos, Maria;
    • Semple, Robert;
    • Syddall, Holly;
    • Cooper, Cyrus;
    • Siniossoglou, Symeon;
    • O'Rahilly, Stephen;
    • Wareham, Nicholas J.;
    • Barroso, Inês
    Publication type:
    Article

  • WFS1 Is a Type 2 Diabetes Susceptibility Gene.

    Published in:
    Diabetes, 2007, v. 56, p. A20
    By:
    • Sandhu, Manjinder S.;
    • Weedon, Michael N.;
    • Fawcett, Katherine A.;
    • Wasson, Jon;
    • Debenham, Sally L.;
    • Daly, Allan;
    • Lango, Hana;
    • Frayling, Timothy M.;
    • Neumann, Roz;
    • Blech, Ilana;
    • Pharoah, Paul D.;
    • Palmer, Colin N.;
    • Kimber, Charlotte;
    • Tavendale, Roger;
    • Morris, Andrew D.;
    • Mccarthy, Mark I.;
    • Walker, Mark;
    • Hitman, Graham A.;
    • Glaser, Benjamin;
    • Permutt, M. A.
    Publication type:
    Article

  • Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa.

    Published in:
    Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 249, doi. 10.1002/mdc3.12372
    By:
    • Anderson, David G.;
    • Németh, Andrea H.;
    • Fawcett, Katherine A.;
    • Sims, David;
    • Miller, Jack;
    • Krause, Amanda
    Publication type:
    Article

  • Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 3, p. 297, doi. 10.1038/ng.1053
    By:
    • Bonnefond, Amélie;
    • Clément, Nathalie;
    • Fawcett, Katherine;
    • Yengo, Loïc;
    • Vaillant, Emmanuel;
    • Guillaume, Jean-Luc;
    • Dechaume, Aurélie;
    • Payne, Felicity;
    • Roussel, Ronan;
    • Czernichow, Sébastien;
    • Hercberg, Serge;
    • Hadjadj, Samy;
    • Balkau, Beverley;
    • Marre, Michel;
    • Lantieri, Olivier;
    • Langenberg, Claudia;
    • Bouatia-Naji, Nabila;
    • Charpentier, Guillaume;
    • Vaxillaire, Martine;
    • Rocheleau, Ghislain
    Publication type:
    Article

  • Common variants in WFS1 confer risk of type 2 diabetes.

    Published in:
    Nature Genetics, 2007, v. 39, n. 8, p. 951, doi. 10.1038/ng2067
    By:
    • Sandhu, Manjinder S.;
    • Weedon, Michael N.;
    • Fawcett, Katherine A.;
    • Wasson, Jon;
    • Debenham, Sally L.;
    • Daly, Allan;
    • Lango, Hana;
    • Frayling, Timothy M.;
    • Neumann, Rosalind J.;
    • Sherva, Richard;
    • Blech, Ilana;
    • Pharoah, Paul D.;
    • Palmer, Colin N. A.;
    • Kimber, Charlotte;
    • Tavendale, Roger;
    • Morris, Andrew D.;
    • McCarthy, Mark I.;
    • Walker, Mark;
    • Hitman, Graham;
    • Glaser, Benjamin
    Publication type:
    Article

  • The frequency of spinocerebellar ataxia type 23 in a UK population.

    Published in:
    Journal of Neurology, 2013, v. 260, n. 3, p. 856, doi. 10.1007/s00415-012-6721-1
    By:
    • Fawcett, Katherine;
    • Mehrabian, Mohadeseh;
    • Liu, Yo-Tsen;
    • Hamed, Sherifa;
    • Elahi, Elahe;
    • Revesz, Tamas;
    • Koutsis, Georgios;
    • Herscheson, Joshua;
    • Schottlaender, Lucia;
    • Wardle, Mark;
    • Morrison, Patrick;
    • Morris, Huw;
    • Giunti, Paola;
    • Wood, Nicholas;
    • Houlden, Henry
    Publication type:
    Article

  • Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population.

    Published in:
    2013
    By:
    • Fawcett, Katherine;
    • Mehrabian, Mohadeseh;
    • Liu, Yo-Tsen;
    • Hamed, Sherifa;
    • Elahi, Elahe;
    • Revesz, Tamas;
    • Koutsis, Georgios;
    • Herscheson, Joshua;
    • Schottlaender, Lucia;
    • Wardle, Mark;
    • Morrison, Patrick;
    • Morris, Huw;
    • Giunti, Paola;
    • Wood, Nicholas;
    • Houlden, Henry
    Publication type:
    Correction notice

  • DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.

    Published in:
    Bioinformatics, 2023, v. 39, n. 4, p. 1, doi. 10.1093/bioinformatics/btad073
    By:
    • Packer, Richard J;
    • Williams, Alex T;
    • Hennah, William;
    • Eisenberg, Micaela T;
    • Shrine, Nick;
    • Fawcett, Katherine A;
    • Pearson, Willow;
    • Guyatt, Anna L;
    • Edris, Ahmed;
    • Hollox, Edward J;
    • Marttila, Mikko;
    • Rao, Balasubramanya S;
    • Bratty, John Raymond;
    • Wain, Louise V;
    • Dudbridge, Frank;
    • Tobin, Martin D
    Publication type:
    Article

  • Behavioral Variation in Gorillas: Evidence of Potential Cultural Traits.

    Published in:
    PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0160483
    By:
    • Robbins, Martha M.;
    • Ando, Chieko;
    • Fawcett, Katherine A.;
    • Grueter, Cyril C.;
    • Hedwig, Daniela;
    • Iwata, Yuji;
    • Lodwick, Jessica L.;
    • Masi, Shelly;
    • Salmi, Roberta;
    • Stoinski, Tara S.;
    • Todd, Angelique;
    • Vercellio, Veronica;
    • Yamagiwa, Juichi
    Publication type:
    Article

  • CGAT: computational genomics analysis toolkit.

    Published in:
    Bioinformatics, 2014, v. 30, n. 9, p. 1290, doi. 10.1093/bioinformatics/btt756
    By:
    • Sims, David;
    • Ilott, Nicholas E.;
    • Sansom, Stephen N.;
    • Sudbery, Ian M.;
    • Johnson, Jethro S.;
    • Fawcett, Katherine A.;
    • Berlanga-Taylor, Antonio J.;
    • Luna-Valero, Sebastian;
    • Ponting, Chris P.;
    • Heger, Andreas
    Publication type:
    Article

  • De novo point mutations in patients diagnosed with ataxic cerebral palsy.

    Published in:
    2015
    By:
    • Schnekenberg, Ricardo Parolin;
    • Perkins, Emma M.;
    • Miller, Jack W.;
    • Davies, Wayne I. L.;
    • D'Adamo, Maria Cristina;
    • Pessia, Mauro;
    • Fawcett, Katherine A.;
    • Sims, David;
    • Gillard, Elodie;
    • Hudspith, Karl;
    • Skehel, Paul;
    • Williams, Jonathan;
    • O'Regan, Mary;
    • Jayawant, Sandeep;
    • Jefferson, Rosalind;
    • Hughes, Sarah;
    • Lustenberger, Andrea;
    • Ragoussis, Jiannis;
    • Jackson, Mandy;
    • Tucker, Stephen J.
    Publication type:
    journal article

  • Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.

    Published in:
    Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241
    By:
    • Tucci, Arianna;
    • Kara, Eleanna;
    • Schossig, Anna;
    • Wolf, Nicole I.;
    • Plagnol, Vincent;
    • Fawcett, Katherine;
    • Paisán‐Ruiz, Coro;
    • Moore, Matthew;
    • Hernandez, Dena;
    • Musumeci, Sebastiano;
    • Tennison, Michael;
    • Hennekam, Raoul;
    • Palmeri, Silvia;
    • Malandrini, Alessandro;
    • Raskin, Salmo;
    • Donnai, Dian;
    • Hennig, Corina;
    • Tzschach, Andreas;
    • Hordijk, Roel;
    • Bast, Thomas
    Publication type:
    Article

  • Asthma exacerbations and eosinophilia in the UK Biobank: a genome-wide association study.

    Published in:
    ERJ Open Research, 2024, v. 10, n. 1, p. 1, doi. 10.1183/23120541.00566-2023
    By:
    • Edris, Ahmed;
    • Voorhies, Kirsten;
    • Lutz, Sharon M.;
    • Iribarren, Carlos;
    • Hall, Ian;
    • Ann Chen Wu;
    • Tobin, Martin;
    • Fawcett, Katherine;
    • Lahousse, Lies
    Publication type:
    Article

  • Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.

    Published in:
    BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01268-y
    By:
    • Fawcett, Katherine A.;
    • Demidov, German;
    • Shrine, Nick;
    • Paynton, Megan L.;
    • Ossowski, Stephan;
    • Sayers, Ian;
    • Wain, Louise V.;
    • Hollox, Edward J.
    Publication type:
    Article