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Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Published in:
2016
By:
- Nunn, Laurence M.;
- Lopes, Luis R.;
- Syrris, Petros;
- Murphy, Cian;
- Plagnol, Vincent;
- Firman, Eileen;
- Dalageorgou, Chrysoula;
- Zorio, Esther;
- Domingo, Diana;
- Murday, Victoria;
- Findlay, Iain;
- Duncan, Alexis;
- Carr-White, Gerry;
- Robert, Leema;
- Bueser, Teofila;
- Langman, Caroline;
- Fynn, Simon P.;
- Goddard, Martin;
- White, Anne;
- Bundgaard, Henning
Publication type:
journal article
Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.
Published in:
Biostatistics, 2009, v. 10, n. 2, p. 327, doi. 10.1093/biostatistics/kxn039
By:
- Vincent Plagnol;
- Deborah J. Smyth;
- John A. Todd;
- David G. Clayton
Publication type:
Article
A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice.
Published in:
Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.562445
By:
- Jarvis, Seth;
- Birsa, Nicol;
- Secrier, Maria;
- Fratta, Pietro;
- Plagnol, Vincent
Publication type:
Article
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Published in:
2016
By:
- Wedatilake, Yehani;
- Niazi, Rojeen;
- Fassone, Elisa;
- Powell, Christopher A.;
- Pearce, Sarah;
- Plagnol, Vincent;
- Saldanha, José W.;
- Kleta, Robert;
- Kling Chong, W.;
- Footitt, Emma;
- Mills, Philippa B.;
- Taanman, Jan-Willem;
- Minczuk, Michal;
- Clayton, Peter T.;
- Rahman, Shamima;
- Chong, W Kling
Publication type:
journal article
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Published in:
2018
By:
- Sivakumar, Prasanth;
- Giorgio, Francesca De;
- Ule, Agnieszka M;
- Neeves, Jacob;
- Nair, Remya R;
- Bentham, Matthew;
- Birsa, Nicol;
- Humphrey, Jack;
- Plagnol, Vincent;
- Acevedo-Arozena, Abraham;
- De Giorgio, Francesca;
- Cunningham, Thomas J;
- Fisher, Elizabeth M C;
- Fratta, Pietro
Publication type:
Letter
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Published in:
2015
By:
- Shahni, Rojeen;
- Cale, Catherine M.;
- Anderson, Glenn;
- Osellame, Laura D.;
- Hambleton, Sophie;
- Jacques, Thomas S.;
- Wedatilake, Yehani;
- Taanman, Jan-Willem;
- Chan, Emma;
- Qasim, Waseem;
- Plagnol, Vincent;
- Chalasani, Annapurna;
- Duchen, Michael R.;
- Gilmour, Kimberly C.;
- Rahman, Shamima
Publication type:
journal article
Relative Influences of Crossing Over and Gene Conversion on the Pattern of Linkage Disequilibrium in Arabidopsis thaliana.
Published in:
Genetics, 2006, v. 172, n. 4, p. 2441, doi. 10.1534/genetics.104.040311
By:
- Plagnol, Vincent;
- Padhukasahasram, Badri;
- Wall, Jeffrey D.;
- Marjoram, Paul;
- Nordborg, Magnus
Publication type:
Article
Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.
Published in:
Nature Genetics, 2015, v. 47, n. 5, p. 523, doi. 10.1038/ng.3248
By:
- Curtis, James;
- Zenner, Helen L;
- Cuchet-Lourenço, Delphine;
- Wu, Changxin;
- Maes, Mailis;
- Alisaac, Ali;
- Stebbings, Emma;
- Kopanitsa, Liliya;
- Nejentsev, Sergey;
- Luo, Yang;
- Liu, Jimmy Z;
- Barrett, Jeffrey C;
- Lo, Kitty;
- Plagnol, Vincent;
- Ignatyeva, Olga;
- Balabanova, Yanina;
- Nikolayevskyy, Vladyslav;
- Drobniewski, Francis;
- Baessmann, Ingelore;
- Thye, Thorsten
Publication type:
Article
A common single-nucleotide variant in T is strongly associated with chordoma.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1185, doi. 10.1038/ng.2419
By:
- Pillay, Nischalan;
- Plagnol, Vincent;
- Tarpey, Patrick S;
- Lobo, Samira B;
- Presneau, Nadège;
- Szuhai, Karoly;
- Halai, Dina;
- Berisha, Fitim;
- Cannon, Stephen R;
- Mead, Simon;
- Kasperaviciute, Dalia;
- Palmen, Jutta;
- Talmud, Philippa J;
- Kindblom, Lars-Gunnar;
- Amary, M Fernanda;
- Tirabosco, Roberto;
- Flanagan, Adrienne M
Publication type:
Article
Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.
Published in:
Nature Genetics, 2009, v. 41, n. 9, p. 1011, doi. 10.1038/ng.434
By:
- Dendrou, Calliope A.;
- Plagnol, Vincent;
- Fung, Erik;
- Yang, Jennie H. M.;
- Downes, Kate;
- Cooper, Jason D.;
- Nutland, Sarah;
- Coleman, Gillian;
- Himsworth, Matthew;
- Hardy, Matthew;
- Burren, Oliver;
- Healy, Barry;
- Walker, Neil M.;
- Koch, Kerstin;
- Ouwehand, Willem H.;
- Bradley, John R.;
- Wareham, Nicholas J.;
- Todd, John A.;
- Wicker, Linda S.
Publication type:
Article
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 703, doi. 10.1038/ng.381
By:
- Barrett, Jeffrey C.;
- Clayton, David G.;
- Concannon, Patrick;
- Akolkar, Beena;
- Cooper, Jason D.;
- Erlich, Henry A.;
- Julier, Cécile;
- Morahan, Grant;
- Nerup, Jørn;
- Nierras, Concepcion;
- Plagnol, Vincent;
- Pociot, Flemming;
- Schuilenburg, Helen;
- Smyth, Deborah J.;
- Stevens, Helen;
- Todd, John A.;
- Walker, Neil M.;
- Rich, Stephen S.
Publication type:
Article
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1399, doi. 10.1038/ng.249
By:
- Cooper, Jason D.;
- Smyth, Deborah J.;
- Smiles, Adam M.;
- Plagnol, Vincent;
- Walker, Neil M.;
- Allen, James E.;
- Downes, Kate;
- Barrett, Jeffrey C.;
- Healy, Barry C.;
- Mychaleckyj, Josyf C.;
- Warram, James H.;
- Todd, John A.
Publication type:
Article
A robust statistical method for case-control association testing with copy number variation.
Published in:
Nature Genetics, 2008, v. 40, n. 10, p. 1245, doi. 10.1038/ng.206
By:
- Barnes, Chris;
- Plagnol, Vincent;
- Fitzgerald, Tomas;
- Redon, Richard;
- Marchini, Jonathan;
- Clayton, David;
- Hurles, Matthew E.
Publication type:
Article
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.
Published in:
Nature Genetics, 2007, v. 39, n. 9, p. 1074, doi. 10.1038/ng2102
By:
- Lowe, Christopher E.;
- Cooper, Jason D.;
- Brusko, Todd;
- Walker, Neil M.;
- Smyth, Deborah J.;
- Bailey, Rebecca;
- Bourget, Kirsi;
- Plagnol, Vincent;
- Field, Sarah;
- Atkinson, Mark;
- Clayton, David G.;
- Wicker, Linda S.;
- Todd, John A.
Publication type:
Article
Recombination and linkage disequilibrium in Arabidopsis thaliana.
Published in:
Nature Genetics, 2007, v. 39, n. 9, p. 1151, doi. 10.1038/ng2115
By:
- Kim, Sung;
- Plagnol, Vincent;
- Hu, Tina T.;
- Toomajian, Christopher;
- Clark, Richard M.;
- Ossowski, Stephan;
- Ecker, Joseph R.;
- Weigel, Detlef;
- Nordborg, Magnus
Publication type:
Article
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Published in:
Nature Genetics, 2007, v. 39, n. 7, p. 857, doi. 10.1038/ng2068
By:
- Todd, John A.;
- Walker, Neil M.;
- Cooper, Jason D.;
- Smyth, Deborah J.;
- Downes, Kate;
- Plagnol, Vincent;
- Bailey, Rebecca;
- Nejentsev, Sergey;
- Field, Sarah F.;
- Payne, Felicity;
- Lowe, Christopher E.;
- Szeszko, Jeffrey S.;
- Hafler, Jason P.;
- Zeitels, Lauren;
- Yang, Jennie H. M.;
- Vella, Adrian;
- Nutland, Sarah;
- Stevens, Helen E.;
- Schuilenburg, Helen;
- Coleman, Gillian
Publication type:
Article
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.
Published in:
Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0432-x
By:
- Mizielinska, Sarah;
- Ridler, Charlotte E.;
- Balendra, Rubika;
- Thoeng, Annora;
- Woodling, Nathan S.;
- Grässer, Friedrich A.;
- Plagnol, Vincent;
- Lashley, Tammaryn;
- Partridge, Linda;
- Isaacs, Adrian M.
Publication type:
Article
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.
Published in:
Scientific Reports, 2017, p. 44849, doi. 10.1038/srep44849
By:
- Hensman Moss, Davina J.;
- Flower, Michael D.;
- Lo, Kitty K.;
- Miller, James R. C.;
- van Ommen, Gert-Jan B.;
- 't Hoen, Peter A. C.;
- Stone, Timothy C.;
- Guinee, Amelia;
- Langbehn, Douglas R.;
- Jones, Lesley;
- Plagnol, Vincent;
- van Roon-Mom, Willeke M. C.;
- Holmans, Peter;
- Tabrizi, Sarah J.
Publication type:
Article
Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up.
Published in:
PLoS ONE, 2015, v. 10, n. 1, p. 1, doi. 10.1371/journal.pone.0116845
By:
- Mistry, Vanisha;
- Bockett, Nicholas A.;
- Levine, Adam P.;
- Mirza, Muddassar M.;
- Hunt, Karen A.;
- Ciclitira, Paul J.;
- Hummerich, Holger;
- Neuhausen, Susan L.;
- Simpson, Michael A.;
- Plagnol, Vincent;
- van Heel, David A.
Publication type:
Article
Association of <i>CHRDL1</i> Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104163
By:
- Davidson, Alice E.;
- Cheong, Sek-Shir;
- Hysi, Pirro G.;
- Venturini, Cristina;
- Plagnol, Vincent;
- Ruddle, Jonathan B.;
- Ali, Hala;
- Carnt, Nicole;
- Gardner, Jessica C.;
- Hassan, Hala;
- Gade, Else;
- Kearns, Lisa;
- Jelsig, Anne Marie;
- Restori, Marie;
- Webb, Tom R.;
- Laws, David;
- Cosgrove, Michael;
- Hertz, Jens M.;
- Russell-Eggitt, Isabelle;
- Pilz, Daniela T.
Publication type:
Article
Extreme Clonality in Lymphoblastoid Cell Lines with Implications for Allele Specific Expression Analyses.
Published in:
PLoS ONE, 2008, v. 3, n. 8, p. 1, doi. 10.1371/journal.pone.0002966
By:
- Plagnol, Vincent;
- Uz, Elif;
- Wallace, Chris;
- Stevens, Helen;
- Clayton, David;
- Ozcelik, Tayfun;
- Todd, John A.
Publication type:
Article
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Published in:
Nature, 2010, v. 464, n. 7289, p. 713, doi. 10.1038/nature08979
By:
- Craddock, Nick;
- Hurles, Matthew E.;
- Cardin, Niall;
- Pearson, Richard D.;
- Plagnol, Vincent;
- Robson, Samuel;
- Vukcevic, Damjan;
- Barnes, Chris;
- Conrad, Donald F.;
- Giannoulatou, Eleni;
- Holmes, Chris;
- Marchini, Jonathan L.;
- Stirrups, Kathy;
- Tobin, Martin D.;
- Wain, Louise V.;
- Yau, Chris;
- Aerts, Jan;
- Ahmad, Tariq;
- Andrews, T. Daniel;
- Arbury, Hazel
Publication type:
Article
Digital PCR analysis of circulating tumor DNA: a biomarker for chondrosarcoma diagnosis, prognostication, and residual disease detection.
Published in:
Cancer Medicine, 2017, v. 6, n. 10, p. 2194, doi. 10.1002/cam4.1146
By:
- Gutteridge, Alice;
- Rathbone, Victoria M.;
- Gibbons, Rebecca;
- Bi, Mark;
- Archard, Nicholas;
- Davies, Kate E. J.;
- Brown, Jake;
- Plagnol, Vincent;
- Pillay, Nischalan;
- Amary, Fernanda;
- O'Donnell, Paul;
- Gupta, Manu;
- Tirabosco, Roberto;
- Flanagan, Adrienne M.;
- Forshew, Tim
Publication type:
Article
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
Published in:
2017
By:
- Hull, Sarah;
- Attanasio, Marcella;
- Arno, Gavin;
- Carss, Keren;
- Robson, Anthony G.;
- Thompson, Dorothy A.;
- Plagnol, Vincent;
- Michaelides, Michel;
- Holder, Graham E.;
- Henderson, Robert H.;
- Raymond, F. Lucy;
- Moore, Anthony T.;
- Webster, Andrew R.
Publication type:
journal article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Published in:
2016
By:
- Hull, Sarah;
- Arno, Gavin;
- Robson, Anthony G.;
- Broadgate, Suzanne;
- Plagnol, Vincent;
- McKibbin, Martin;
- Halford, Stephanie;
- Michaelides, Michel;
- Holder, Graham E.;
- Moore, Anthony T.;
- Khan, Kamron N.;
- Webster, Andrew R.
Publication type:
journal article
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
Published in:
2016
By:
- Hull, Sarah;
- Malik, Aeesha N. J.;
- Arno, Gavin;
- Mackay, S.;
- Plagnol, Vincent;
- Michaelides, Michel;
- Mansour, Sahar;
- Albanese, Assunta;
- Brown, Katrina Tatton;
- Holder, Graham E.;
- Webster, Andrew R.;
- Heath, Paul T.;
- Moore, Anthony T.;
- Mackay, Donna S
Publication type:
journal article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
Published in:
2016
By:
- Arno, Gavin;
- Holder, Graham E.;
- Chakarova, Christina;
- Kohl, Susanne;
- Pontikos, Nikolas;
- Fiorentino, Alessia;
- Plagnol, Vincent;
- Cheetham, Michael E.;
- Hardcastle, Alison J.;
- Webster, Andrew R.;
- Michaelides, Michel;
- UK Inherited Retinal Disease Consortium
Publication type:
journal article
Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43820-4
By:
- Granno, Simone;
- Nixon-Abell, Jonathon;
- Berwick, Daniel C.;
- Tosh, Justin;
- Heaton, George;
- Almudimeegh, Sultan;
- Nagda, Zenisha;
- Rain, Jean-Christophe;
- Zanda, Manuela;
- Plagnol, Vincent;
- Tybulewicz, Victor L. J.;
- Cleverley, Karen;
- Wiseman, Frances K.;
- Fisher, Elizabeth M. C.;
- Harvey, Kirsten
Publication type:
Article
Tubular aggregates caused by serine active site containing 1 ( SERAC1) mutations in a patient with a mitochondrial encephalopathy.
Published in:
Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 399, doi. 10.1111/nan.12190
By:
- Wedatilake, Yehani;
- Plagnol, Vincent;
- Anderson, Glenn;
- Paine, Simon M. L.;
- Clayton, Peter T.;
- Jacques, Thomas S.;
- Rahman, Shamima
Publication type:
Article
Quantitative analysis of cryptic splicing associated with TDP-43 depletion.
Published in:
BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0274-1
By:
- Humphrey, Jack;
- Emmett, Warren;
- Fratta, Pietro;
- Isaacs, Adrian M.;
- Plagnol, Vincent
Publication type:
Article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Published in:
2014
By:
- Mencacci, Niccolò E;
- Isaias, Ioannis U;
- Reich, Martin M;
- Ganos, Christos;
- Plagnol, Vincent;
- Polke, James M;
- Bras, Jose;
- Hersheson, Joshua;
- Stamelou, Maria;
- Pittman, Alan M;
- Noyce, Alastair J;
- Mok, Kin Y;
- Opladen, Thomas;
- Kunstmann, Erdmute;
- Hodecker, Sybille;
- Münchau, Alexander;
- Volkmann, Jens;
- Samnick, Samuel;
- Sidle, Katie;
- Nanji, Tina
Publication type:
journal article
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2480, doi. 10.1093/brain/awu179
By:
- Mencacci, Niccolò E.;
- Isaias, Ioannis U.;
- Reich, Martin M.;
- Ganos, Christos;
- Plagnol, Vincent;
- Polke, James M.;
- Bras, Jose;
- Hersheson, Joshua;
- Stamelou, Maria;
- Pittman, Alan M.;
- Noyce, Alastair J.;
- Mok, Kin Y.;
- Opladen, Thomas;
- Kunstmann, Erdmute;
- Hodecker, Sybille;
- Münchau, Alexander;
- Volkmann, Jens;
- Samnick, Samuel;
- Sidle, Katie;
- Nanji, Tina
Publication type:
Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269
By:
- Cirak, Sebahattin;
- Foley, Aileen Reghan;
- Herrmann, Ralf;
- Willer, Tobias;
- Yau, Shu;
- Stevens, Elizabeth;
- Torelli, Silvia;
- Brodd, Lina;
- Kamynina, Alisa;
- Vondracek, Petr;
- Roper, Helen;
- Longman, Cheryl;
- Korinthenberg, Rudolf;
- Marrosu, Gianni;
- Nürnberg, Peter;
- Michele, Daniel E.;
- Plagnol, Vincent;
- Hurles, Matt;
- Moore, Steven A.;
- Sewry, Caroline A.
Publication type:
Article
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2151, doi. 10.1172/JCI78963
By:
- Tummala, Hemanth;
- Walne, Amanda;
- Collopy, Laura;
- Cardoso, Shirleny;
- de la Fuente, Josu;
- Lawson, Sarah;
- Powell, James;
- Cooper, Nicola;
- Foster, Alison;
- Mohammed, Shehla;
- Plagnol, Vincent;
- Vulliamy, Thomas;
- Dokal, Inderjeet
Publication type:
Article
A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting.
Published in:
European Journal of Preventive Cardiology, 2024, v. 31, n. 6, p. 716, doi. 10.1093/eurjpc/zwae004
By:
- Fuat, Ahmet;
- Adlen, Ella;
- Monane, Mark;
- Coll, Ruth;
- Groves, Sarah;
- Little, Elizabeth;
- Wild, Jonathan;
- Kamali, Farzan J;
- Soni, Yusuf;
- Haining, Shona;
- Riding, Helen;
- Riveros-Mckay, Fernando;
- Peneva, Iliana;
- Lachapelle, Alexander;
- Giner-Delgado, Carla;
- Weale, Michael E;
- Plagnol, Vincent;
- Harrison, Seamus;
- Donnelly, Peter
Publication type:
Article
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.
Published in:
Nature Communications, 2016, v. 7, n. 12, p. 13992, doi. 10.1038/ncomms13992
By:
- Eletto, Davide;
- Burns, Siobhan O.;
- Angulo, Ivan;
- Plagnol, Vincent;
- Gilmour, Kimberly C.;
- Henriquez, Frances;
- Curtis, James;
- Gaspar, Miguel;
- Nowak, Karolin;
- Daza-Cajigal, Vanessa;
- Kumararatne, Dinakantha;
- Doffinger, Rainer;
- Thrasher, Adrian J.;
- Nejentsev, Sergey
Publication type:
Article
CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data.
Published in:
Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0992-2
By:
- Cairns, Jonathan;
- Freire-Pritchett, Paula;
- Wingett, Steven W.;
- Várnai, Csilla;
- Dimond, Andrew;
- Plagnol, Vincent;
- Zerbino, Daniel;
- Schoenfelder, Stefan;
- Javierre, Biola-Maria;
- Osborne, Cameron;
- Fraser, Peter;
- Spivakov, Mikhail
Publication type:
Article
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.
Published in:
PLoS ONE, 2024, v. 19, n. 9, p. 1, doi. 10.1371/journal.pone.0307270
By:
- Thompson, Deborah J.;
- Wells, Daniel;
- Selzam, Saskia;
- Peneva, Iliana;
- Moore, Rachel;
- Sharp, Kevin;
- Tarran, William A.;
- Beard, Edward J.;
- Riveros-Mckay, Fernando;
- Giner-Delgado, Carla;
- Palmer, Duncan;
- Seth, Priyanka;
- Harrison, James;
- Futema, Marta;
- McVean, Gil;
- Plagnol, Vincent;
- Donnelly, Peter;
- Weale, Michael E.
Publication type:
Article
Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients.
Published in:
2015
By:
- Brown, Julianne R.;
- Morfopoulou, Sofia;
- Hubb, Jonathan;
- Emmett, Warren A.;
- Ip, Winnie;
- Shah, Divya;
- Brooks, Tony;
- Paine, Simon M. L.;
- Anderson, Glenn;
- Virasami, Alex;
- Tong, C. Y. William;
- Clark, Duncan A.;
- Plagnol, Vincent;
- Jacques, Thomas S.;
- Qasim, Waseem;
- Hubank, Mike;
- Breuer, Judith
Publication type:
Case Study
A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 2, p. 571, doi. 10.1038/jid.2012.289
By:
- Haghighi, Alireza;
- Scott, Claire A;
- Poon, Daniel S;
- Yaghoobi, Reza;
- Saleh-Gohari, Nasrollah;
- Plagnol, Vincent;
- Kelsell, David P
Publication type:
Article
Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 2, p. 573, doi. 10.1038/jid.2012.332
By:
- Scott, Claire A;
- Plagnol, Vincent;
- Nitoiu, Daniela;
- Bland, Philip J;
- Blaydon, Diana C;
- Chronnell, Catherine M;
- Poon, Daniel S;
- Bourn, David;
- Gárdos, László;
- Császár, Andrea;
- Tihanyi, Mariann;
- Rustin, Malcolm;
- Burrows, Nigel P;
- Bennett, Chris;
- Harper, John I;
- Conrad, Bernard;
- Verma, Ishwar C;
- Taibjee, Saleem M;
- Moss, Celia;
- O'toole, Edel A
Publication type:
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
The effect of inhaled IFN-β on worsening of asthma symptoms caused by viral infections. A randomized trial.
Published in:
2014
By:
- Djukanovic, Ratko;
- Harrison, Tim;
- Johnston, Sebastian L;
- Gabbay, Flic;
- Wark, Peter;
- Thomson, Neil C;
- Niven, Robert;
- Singh, Dave;
- Reddel, Helen K;
- Davies, Donna E;
- Marsden, Richard;
- Boxall, Christine;
- Dudley, Sarah;
- Plagnol, Vincent;
- Holgate, Stephen T;
- Monk, Phillip;
- Djukanović, Ratko;
- INTERCIA Study Group
Publication type:
journal article
The Effect of Inhaled IFN-β on Worsening of Asthma Symptoms Caused by Viral Infections.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2014, v. 190, n. 2, p. 145, doi. 10.1164/rccm.201312-2235OC
By:
- Djukanović, Ratko;
- Harrison, Tim;
- Johnston, Sebastian L.;
- Gabbay, Flic;
- Wark, Peter;
- Thomson, Neil C.;
- Niven, Robert;
- Singh, Dave;
- Reddel, Helen K.;
- Davies, Donna E.;
- Marsden, Richard;
- Boxall, Christine;
- Dudley, Sarah;
- Plagnol, Vincent;
- Holgate, Stephen T.;
- Monk, Phillip
Publication type:
Article
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
Published in:
BMC Pregnancy & Childbirth, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2393-14-229
By:
- Hill, Melissa;
- Wright, David;
- Daley, Rebecca;
- Lewis, Celine;
- McKay, Fiona;
- Mason, Sarah;
- Lench, Nicholas;
- Howarth, Abigail;
- Boustred, Christopher;
- Lo, Kitty;
- Plagnol, Vincent;
- Spencer, Kevin;
- Fisher, Jane;
- Kroese, Mark;
- Morris, Stephen;
- Chitty, Lyn S.
Publication type:
Article
Detecting Ancient Admixture and Estimating Demographic Parameters in Multiple Human Populations.
Published in:
Molecular Biology & Evolution, 2009, v. 26, n. 8, p. 1823, doi. 10.1093/molbev/msp096
By:
- Wall, Jeffrey D.;
- Lohmueller, Kirk E.;
- Plagnol, Vincent
Publication type:
Article
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 211, doi. 10.1007/s10545-015-9813-0
By:
- Kanabus, Marta;
- Shahni, Rojeen;
- Saldanha, José;
- Murphy, Elaine;
- Plagnol, Vincent;
- Hoff, William;
- Heales, Simon;
- Rahman, Shamima
Publication type:
Article
RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 14, p. 2893, doi. 10.1093/hmg/ddw142
By:
- Miller, James R. C.;
- Lo, Kitty K.;
- Andre, Ralph;
- Hensman Moss, Davina J.;
- Träger, Ulrike;
- Stone, Timothy C.;
- Jones, Lesley;
- Holmans, Peter;
- Plagnol, Vincent;
- Tabrizi, Sarah J.
Publication type:
Article
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 6, p. 1774, doi. 10.1093/hmg/ddu581
By:
- Cooper, Nicholas J.;
- Shtir, Corina J.;
- Smyth, Deborah J.;
- Guo, Hui;
- Swafford, Austin D.;
- Zanda, Manuela;
- Hurles, Matthew E.;
- Walker, Neil M.;
- Plagnol, Vincent;
- Cooper, Jason D.;
- Howson, Joanna M.M.;
- Burren, Oliver S.;
- Onengut-Gumuscu, Suna;
- Rich, Stephen S.;
- Todd, John A.
Publication type:
Article

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