Works matching AU Fawcett, Katherine A.

Results: 20

Genomic Locus Tagged by Lung Function GWAS SNV rs12477314 (2q37.3) Acts as a Regulatory Region for a Systemic Inflammatory Phenotype.

Published in:

FASEB Journal, 2025, v. 39, n. 12, p. 1, doi. 10.1096/fj.202403208R

By:

Grech, Godwin M.;
Fawcett, Katherine A.;
Hall, Robert J.;
Grech, Godfrey;
Ellul‐Micallef, Roger;
Hall, Ian P.;
Fenech, Anthony G.

Publication type:

Article

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

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

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

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

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

HAPPY?

Published in:

2018

By:

Fawcett, Katherine

Publication type:

Short Story

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

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

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

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

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

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