Radek Szklarczyk

Radek Szklarczyk

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Radek Szklarczyk

Radek Szklarczyk

Publications by authors named "Radek Szklarczyk"

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36Publications

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A comprehensive strategy for exome-based preconception carrier screening.

Genet Med 2017 05 27;19(5):583-592. Epub 2016 Oct 27.

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.153DOI Listing
May 2017

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

J Pediatr 2017 03 9;182:371-374.e2. Epub 2017 Jan 9.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.12.032DOI Listing
March 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Front Neurol 2016 16;7:203. Epub 2016 Nov 16.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

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http://dx.doi.org/10.3389/fneur.2016.00203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110515PMC
November 2016

WeGET: predicting new genes for molecular systems by weighted co-expression.

Nucleic Acids Res 2016 Jan 17;44(D1):D567-73. Epub 2015 Nov 17.

Centre for Molecular and Biomolecular Informatics (CMBI), Radboud University Medical Centre, Geert Grooteplein Zuid 26-28, 6525 GA Nijmegen, Nijmegen, The Netherlands Centre for Systems Biology and Bioenergetics (CSBB), Radboud University Medical Centre, Geert Grooteplein Zuid 10, 6500 HB Nijmegen, Nijmegen, The Netherlands

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http://dx.doi.org/10.1093/nar/gkv1228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702868PMC
January 2016

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.

PLoS Comput Biol 2015 Oct 20;11(10):e1004553. Epub 2015 Oct 20.

Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1371/journal.pcbi.1004553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618338PMC
October 2015

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.

BMC Genomics 2015 Sep 15;16:691. Epub 2015 Sep 15.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, PO BOX 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s12864-015-1883-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570683PMC
September 2015

Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity.

Genes Nutr 2015 Jul 6;10(4):465. Epub 2015 May 6.

Department of Human Biology, NUTRIM School for Nutrition, Toxicology and Metabolism, Maastricht University Medical Centre, Maastricht, The Netherlands,

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http://dx.doi.org/10.1007/s12263-015-0465-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420755PMC
July 2015

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Hum Mol Genet 2014 Dec 9;23(23):6356-65. Epub 2014 Jul 9.

Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500HB Nijmegen, The Netherlands,

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http://dx.doi.org/10.1093/hmg/ddu357DOI Listing
December 2014

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

Control of mitochondrial integrity in ageing and disease.

Philos Trans R Soc Lond B Biol Sci 2014 Jul;369(1646):20130439

Faculty for Biosciences and Cluster of Excellence 'Macromolecular Complexes', Goethe University, Molecular Developmental Biology, 60438 Frankfurt am Main, Germany

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http://dx.doi.org/10.1098/rstb.2013.0439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032516PMC
July 2014

Loss, replacement and gain of proteins at the origin of the mitochondria.

Biochim Biophys Acta 2013 Feb 10;1827(2):224-31. Epub 2012 Aug 10.

Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6400 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2012.08.001DOI Listing
February 2013

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.

Antioxid Redox Signal 2013 Jan 11;18(2):129-38. Epub 2012 Sep 11.

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1089/ars.2011.4253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513987PMC
January 2013

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain.

Cell Metab 2012 Sep 16;16(3):378-86. Epub 2012 Aug 16.

Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, 28029, Spain.

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http://dx.doi.org/10.1016/j.cmet.2012.07.015DOI Listing
September 2012

Unraveling the human dendritic cell phagosome proteome by organellar enrichment ranking.

J Proteomics 2012 Feb 3;75(5):1547-62. Epub 2011 Dec 3.

Department of Tumor Immunology at the Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Postbox 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jprot.2011.11.024DOI Listing
February 2012

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Mitochondrion 2011 Nov 14;11(6):954-63. Epub 2011 Sep 14.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15677249110027
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http://dx.doi.org/10.1016/j.mito.2011.08.012DOI Listing
November 2011

FACIL: Fast and Accurate Genetic Code Inference and Logo.

Bioinformatics 2011 Jul 8;27(14):1929-33. Epub 2011 Jun 8.

Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein 28, 6525 GA, Nijmegen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btr316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129529PMC
July 2011

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Am J Hum Genet 2011 Apr 31;88(4):488-93. Epub 2011 Mar 31.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, NL-6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071910PMC
April 2011

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.

FEBS Lett 2011 Mar 22;585(5):737-43. Epub 2011 Feb 22.

Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.febslet.2011.01.046DOI Listing
March 2011

Mosaic origin of the mitochondrial proteome.

Proteomics 2010 Nov 3;10(22):4012-24. Epub 2010 Nov 3.

Radboud University Nijmegen Medical Centre, CMBI/NCMLS, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/pmic.201000329DOI Listing
November 2010

Expansion of the human mitochondrial proteome by intra- and inter-compartmental protein duplication.

Genome Biol 2009 24;10(11):R135. Epub 2009 Nov 24.

Centre for Molecular and Biomolecular Informatics, NCMLS, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/gb-2009-10-11-r135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3091328PMC
July 2010

Mitochondrial proteome evolution and genetic disease.

Biochim Biophys Acta 2009 Dec 26;1792(12):1122-9. Epub 2009 Mar 26.

CMBI 260, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Box 9101, 6500 HB Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2009.03.005DOI Listing
December 2009

Complex fate of paralogs.

BMC Evol Biol 2008 Dec 18;8:337. Epub 2008 Dec 18.

Centre for Molecular and Biomolecular Informatics, NCMLS, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1186/1471-2148-8-337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628386PMC
December 2008

Rapid asymmetric evolution of a dual-coding tumor suppressor INK4a/ARF locus contradicts its function.

Proc Natl Acad Sci U S A 2007 Jul 24;104(31):12807-12. Epub 2007 Jul 24.

Centre for Integrative Bioinformatics, Vrije University, De Boelelaan 1081a, 1081 HV Amsterdam, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0703238104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1937548PMC
July 2007

A first look at ARFome: dual-coding genes in mammalian genomes.

PLoS Comput Biol 2007 May;3(5):e91

Center for Comparative Genomics and Bioinformatics, The Pennsylvania State University, University Park, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.0030091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1868773PMC
May 2007

AuberGene--a sensitive genome alignment tool.

Bioinformatics 2006 Jun 10;22(12):1431-6. Epub 2006 Apr 10.

Centre for Integrative Bioinformatics VU (IBIVU), Faculty of Sciences and Faculty of Earth and Life Sciences, Vrije Universiteit De Boelelaan 1081A, 1081 HV Amsterdam, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btl112DOI Listing
June 2006

Tracking repeats using significance and transitivity.

Bioinformatics 2004 Aug;20 Suppl 1:i311-7

Centre for Integrative Bioinformatics (IBIVU), Faculty of Sciences and Faculty of Earth and Life Sciences, Vrije Universiteit Amsterdam, De Boelelaan 1081A, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/bioinformatics/bth911DOI Listing
August 2004