Búsqueda | Biblioteca Virtual en Salud

1.

DNA Methylation Age Acceleration Is Not Associated with Age of Onset in Parkinson's Disease.

Gaare, Johannes J; Brügger, Kim; Nido, Gonzalo S; Tzoulis, Charalampos.

Mov Disord ; 38(11): 2064-2071, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37551021

2.

RICOPILI: Rapid Imputation for COnsortias PIpeLIne.

Lam, Max; Awasthi, Swapnil; Watson, Hunna J; Goldstein, Jackie; Panagiotaropoulou, Georgia; Trubetskoy, Vassily; Karlsson, Robert; Frei, Oleksander; Fan, Chun-Chieh; De Witte, Ward; Mota, Nina R; Mullins, Niamh; Brügger, Kim; Lee, S Hong; Wray, Naomi R; Skarabis, Nora; Huang, Hailiang; Neale, Benjamin; Daly, Mark J; Mattheisen, Manuel; Walters, Raymond; Ripke, Stephan.

Bioinformatics ; 36(3): 930-933, 2020 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-31393554

3.

Structure and mechanism of the CMR complex for CRISPR-mediated antiviral immunity.

Zhang, Jing; Rouillon, Christophe; Kerou, Melina; Reeks, Judith; Brugger, Kim; Graham, Shirley; Reimann, Julia; Cannone, Giuseppe; Liu, Huanting; Albers, Sonja-Verena; Naismith, James H; Spagnolo, Laura; White, Malcolm F.

Mol Cell ; 45(3): 303-13, 2012 Feb 10.

Artículo en Inglés | MEDLINE | ID: mdl-22227115

4.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon, Katherine; Spasic-Boskovic, Olivera; Brugger, Kim; Graves, Tracey D; Abbs, Stephen; Park, Soo-Mi; Ambegaonkar, Gautam; Armstrong, Ruth.

Neurogenetics ; 18(1): 49-55, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-28063088

5.

gEVAL - a web-based browser for evaluating genome assemblies.

Chow, William; Brugger, Kim; Caccamo, Mario; Sealy, Ian; Torrance, James; Howe, Kerstin.

Bioinformatics ; 32(16): 2508-10, 2016 08 15.

Artículo en Inglés | MEDLINE | ID: mdl-27153597

6.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Hague, Jennifer; Delon, Isabelle; Brugger, Kim; Martin, Howard; Sparnon, Leanne; Simonic, Ingrid; Abbs, Stephen; Park, Soo-Mi.

Am J Med Genet A ; 173(7): 1931-1935, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28497491

7.

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold, Rhian L; Clarke, Helen C; Spasic-Boskovic, Olivera; Brugger, Kim; Abbs, Stephen; Bingham, Coralie; Shaw-Smith, Charles.

BMC Nephrol ; 18(1): 234, 2017 Jul 12.

Artículo en Inglés | MEDLINE | ID: mdl-28701203

8.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Hague, Jennifer; Delon, Isabelle; Brugger, Kim; Martin, Howard; Abbs, Stephen; Park, Soo-Mi.

Am J Med Genet A ; 170(6): 1608-12, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-26996280

9.

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.

Plumb, Lucy A; Marlais, Matko; Bierzynska, Agnieszka; Martin, Howard; Brugger, Kim; Abbs, Stephen; Saleem, Moin A.

BMC Nephrol ; 15: 76, 2014 May 09.

Artículo en Inglés | MEDLINE | ID: mdl-24886545

10.

Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson's disease.

Gaare, Johannes J; Dölle, Christian; Brakedal, Brage; Brügger, Kim; Haugarvoll, Kristoffer; Nido, Gonzalo S; Tzoulis, Charalampos.

iScience ; 26(3): 106278, 2023 Mar 17.

Artículo en Inglés | MEDLINE | ID: mdl-36936793

11.

Genome analyses of Icelandic strains of Sulfolobus islandicus, model organisms for genetic and virus-host interaction studies.

Guo, Li; Brügger, Kim; Liu, Chao; Shah, Shiraz A; Zheng, Huajun; Zhu, Yongqiang; Wang, Shengyue; Lillestøl, Reidun K; Chen, Lanming; Frank, Jeremy; Prangishvili, David; Paulin, Lars; She, Qunxin; Huang, Li; Garrett, Roger A.

J Bacteriol ; 193(7): 1672-80, 2011 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21278296

12.

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.

Rainbow, Daniel B; Yang, Xin; Burren, Oliver; Pekalski, Marcin L; Smyth, Deborah J; Klarqvist, Marcus D R; Penkett, Christopher J; Brugger, Kim; Martin, Howard; Todd, John A; Wallace, Chris; Wicker, Linda S.

Eur J Immunol ; 45(11): 3200-3, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26420295

13.

CRISPR families of the crenarchaeal genus Sulfolobus: bidirectional transcription and dynamic properties.

Lillestøl, Reidun K; Shah, Shiraz A; Brügger, Kim; Redder, Peter; Phan, Hien; Christiansen, Jan; Garrett, Roger A.

Mol Microbiol ; 72(1): 259-72, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19239620

14.

One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.

Gutowska-Ding, Maria Weronika; Deans, Zandra C; Roos, Christophe; Matilainen, Jukka; Khawaja, Farrah; Brügger, Kim; Ahn, Jo Wook; Boustred, Christopher; Patton, Simon J.

Eur J Hum Genet ; 28(2): 202-212, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31570784

15.

Development and validation of a universal blood donor genotyping platform: a multinational prospective study.

Gleadall, Nicholas S; Veldhuisen, Barbera; Gollub, Jeremy; Butterworth, Adam S; Ord, John; Penkett, Christopher J; Timmer, Tiffany C; Sauer, Carolin M; van der Bolt, Nieke; Brown, Colin; Brugger, Kim; Dilthey, Alexander T; Duarte, Daniel; Grimsley, Shane; van den Hurk, Katja; Jongerius, John M; Luken, Jessie; Megy, Karyn; Miflin, Gail; Nelson, Christopher S; Prinsze, Femmeke J; Sambrook, Jennifer; Simeoni, Ilenia; Sweeting, Michael; Thornton, Nicole; Trompeter, Sara; Tuna, Salih; Varma, Ram; Walker, Matthew R; Danesh, John; Roberts, David J; Ouwehand, Willem H; Stirrups, Kathleen E; Rendon, Augusto; Westhoff, Connie M; Di Angelantonio, Emanuele; van der Schoot, C Ellen; Astle, William J; Watkins, Nicholas A; Lane, William J.

Blood Adv ; 4(15): 3495-3506, 2020 08 11.

Artículo en Inglés | MEDLINE | ID: mdl-32750130

16.

Four newly isolated fuselloviruses from extreme geothermal environments reveal unusual morphologies and a possible interviral recombination mechanism.

Redder, Peter; Peng, Xu; Brügger, Kim; Shah, Shiraz A; Roesch, Ferdinand; Greve, Bo; She, Qunxin; Schleper, Christa; Forterre, Patrick; Garrett, Roger A; Prangishvili, David.

Environ Microbiol ; 11(11): 2849-62, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19638177

17.

Structure of the acidianus filamentous virus 3 and comparative genomics of related archaeal lipothrixviruses.

Vestergaard, Gisle; Aramayo, Ricardo; Basta, Tamara; Häring, Monika; Peng, Xu; Brügger, Kim; Chen, Lanming; Rachel, Reinhard; Boisset, Nicolas; Garrett, Roger A; Prangishvili, David.

J Virol ; 82(1): 371-81, 2008 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-17942536

18.

The Sulfolobus database.

Brügger, Kim.

Nucleic Acids Res ; 35(Database issue): D413-5, 2007 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-17088281

19.

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Nicholas, Adeline K; Serra, Eva G; Cangul, Hakan; Alyaarubi, Saif; Ullah, Irfan; Schoenmakers, Erik; Deeb, Asma; Habeb, Abdelhadi M; Almaghamsi, Mohammad; Peters, Catherine; Nathwani, Nisha; Aycan, Zehra; Saglam, Halil; Bober, Ece; Dattani, Mehul; Shenoy, Savitha; Murray, Philip G; Babiker, Amir; Willemsen, Ruben; Thankamony, Ajay; Lyons, Greta; Irwin, Rachael; Padidela, Raja; Tharian, Kavitha; Davies, Justin H; Puthi, Vijith; Park, Soo-Mi; Massoud, Ahmed F; Gregory, John W; Albanese, Assunta; Pease-Gevers, Evelien; Martin, Howard; Brugger, Kim; Maher, Eamonn R; Chatterjee, V Krishna K; Anderson, Carl A; Schoenmakers, Nadia.

J Clin Endocrinol Metab ; 101(12): 4521-4531, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27525530

20.

Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing.

Wang, Ming; Escudero-Ibarz, Leire; Moody, Sarah; Zeng, Naiyan; Clipson, Alexandra; Huang, Yuanxue; Xue, Xuemin; Grigoropoulos, Nicholas F; Barrans, Sharon; Worrillow, Lisa; Forshew, Tim; Su, Jing; Firth, Andrew; Martin, Howard; Jack, Andrew; Brugger, Kim; Du, Ming-Qing.

J Mol Diagn ; 17(5): 521-32, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-26165823

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