Publications by authors named "Kim Brugger"

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DNA Methylation Age Acceleration Is Not Associated with Age of Onset in Parkinson's Disease.
Johannes J Gaare, Kim Brügger, Gonzalo S Nido, Charalampos Tzoulis

Mov Disord· November 2023

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Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson's disease.
Johannes J Gaare, Christian Dölle, Brage Brakedal, Kim Brügger, Kristoffer Haugarvoll

iScience· March 2023

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Development and validation of a universal blood donor genotyping platform: a multinational prospective study.
Nicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, Adam S Butterworth, John Ord, Kim Brugger

Blood Adv· August 2020

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RICOPILI: Rapid Imputation for COnsortias PIpeLIne.
Max Lam, Swapnil Awasthi, Hunna J Watson, Jackie Goldstein, Georgia Panagiotaropoulou

Bioinformatics· February 2020

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One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.
Maria Weronika Gutowska-Ding, Zandra C Deans, Christophe Roos, Jukka Matilainen, Farrah Khawaja

Eur J Hum Genet· February 2020

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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon

Am J Med Genet A· July 2017

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Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
Rhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, Kim Brugger, Stephen Abbs

BMC Nephrol· July 2017

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Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs

Neurogenetics· January 2017

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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Adeline K Nicholas, Eva G Serra, Hakan Cangul, Saif Alyaarubi, Irfan Ullah, Kim Brugger

J Clin Endocrinol Metab· December 2016

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gEVAL - a web-based browser for evaluating genome assemblies.
William Chow, Kim Brugger, Mario Caccamo, Ian Sealy, James Torrance

Bioinformatics· August 2016

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Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Stephen Abbs

Am J Med Genet A· June 2016

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Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.
Daniel B Rainbow, Xin Yang, Oliver Burren, Marcin L Pekalski, Deborah J Smyth, Kim Brugger

Eur J Immunol· November 2015

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Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing.
Ming Wang, Leire Escudero-Ibarz, Sarah Moody, Naiyan Zeng, Alexandra Clipson, Kim Brugger

J Mol Diagn· September 2015

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Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.
Lucy A Plumb, Matko Marlais, Agnieszka Bierzynska, Howard Martin, Kim Brugger

BMC Nephrol· May 2014

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Draft Genome Sequence of Serratia sp. Strain ATCC 39006, a Model Bacterium for Analysis of the Biosynthesis and Regulation of Prodigiosin, a Carbapenem, and Gas Vesicles.
Peter C Fineran, Marina C Iglesias Cans, Joshua P Ramsay, Nabil M Wilf, Desiree Cossyleon

Genome Announc· December 2013

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Structure and mechanism of the CMR complex for CRISPR-mediated antiviral immunity.
Jing Zhang, Christophe Rouillon, Melina Kerou, Judith Reeks, Kim Brugger

Mol Cell· February 2012

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Genome analyses of Icelandic strains of Sulfolobus islandicus, model organisms for genetic and virus-host interaction studies.
Li Guo, Kim Brügger, Chao Liu, Shiraz A Shah, Huajun Zheng

J Bacteriol· April 2011

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Four newly isolated fuselloviruses from extreme geothermal environments reveal unusual morphologies and a possible interviral recombination mechanism.
Peter Redder, Xu Peng, Kim Brügger, Shiraz A Shah, Ferdinand Roesch

Environ Microbiol· November 2009

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CRISPR families of the crenarchaeal genus Sulfolobus: bidirectional transcription and dynamic properties.
Reidun K Lillestøl, Shiraz A Shah, Kim Brügger, Peter Redder, Hien Phan

Mol Microbiol· April 2009

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Structure of the acidianus filamentous virus 3 and comparative genomics of related archaeal lipothrixviruses.
Gisle Vestergaard, Ricardo Aramayo, Tamara Basta, Monika Häring, Xu Peng

J Virol· January 2008

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The genome of Hyperthermus butylicus: a sulfur-reducing, peptide fermenting, neutrophilic Crenarchaeote growing up to 108 degrees C.
Kim Brügger, Lanming Chen, Markus Stark, Arne Zibat, Peter Redder

Archaea· May 2007

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The Sulfolobus database.
Kim Brügger

Nucleic Acids Res· January 2007

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A putative viral defence mechanism in archaeal cells.
Reidun K Lillestøl, Peter Redder, Roger A Garrett, Kim Brügger

Archaea· August 2006

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The genome of Sulfolobus acidocaldarius, a model organism of the Crenarchaeota.
Lanming Chen, Kim Brügger, Marie Skovgaard, Peter Redder, Qunxin She

J Bacteriol· July 2005

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Structure and genome organization of AFV2, a novel archaeal lipothrixvirus with unusual terminal and core structures.
Monika Häring, Gisle Vestergaard, Kim Brügger, Reinhard Rachel, Roger A Garrett

J Bacteriol· June 2005

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