Tomasz Zemojtel

Tomasz Zemojtel

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Tomasz Zemojtel

Publications by authors named "Tomasz Zemojtel"

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Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis.

Leukemia 2018 09 1;32(9):1908-1919. Epub 2018 Mar 1.

Department of Hematology, Oncology, and Tumor Immunology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41375-018-0047-7DOI Listing
September 2018

Ocular findings in Loeys-Dietz syndrome.

Br J Ophthalmol 2018 08 16;102(8):1036-1040. Epub 2017 Nov 16.

Department of Ophthalmology, Charité-University Medicine Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/bjophthalmol-2017-311254DOI Listing
August 2018

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.

Nucleic Acids Res 2017 01 18;45(D1):D68-D73. Epub 2016 Oct 18.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany

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http://dx.doi.org/10.1093/nar/gkw925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210629PMC
January 2017

Alternate-locus aware variant calling in whole genome sequencing.

Genome Med 2016 12 13;8(1):130. Epub 2016 Dec 13.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.

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http://dx.doi.org/10.1186/s13073-016-0383-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155401PMC
December 2016

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.

Atherosclerosis 2016 10 26;253:88-93. Epub 2016 Aug 26.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; The Berlin Aging Study II, Research Group on Geriatrics, Charité-Universitätsmedizin Berlin, Reinickendorfer Str. 61, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.08.037DOI Listing
October 2016

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Am J Med Genet A 2016 09 9;170(9):2274-81. Epub 2016 Jun 9.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37798DOI Listing
September 2016

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Am J Hum Genet 2016 09 25;99(3):595-606. Epub 2016 Aug 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011059PMC
September 2016

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Eur J Med Genet 2015 Aug 19;58(8):376-80. Epub 2015 Jun 19.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.05.007DOI Listing
August 2015

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Am J Hum Genet 2015 Jul 25;97(1):111-24. Epub 2015 Jun 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507PMC
July 2015

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Eur J Hum Genet 2015 Jun 8;23(6):870-3. Epub 2014 Oct 8.

1] FG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany [2] Institute for Medical Genetics and Human Genetics, Universitätsmedizin Berlin, Charité Berlin - Campus Virchow, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795057PMC
June 2015

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Bioinformatics 2014 Nov 30;30(22):3215-22. Epub 2014 Jul 30.

Mouse Informatics Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Genome Informatics Department, Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA, Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-701 Poznan, Poland, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin and Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany Mouse Informatics Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Genome Informatics Department, Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA, Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-701 Poznan, Poland, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin and Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany Mouse Informatics Group, The Wellcome Trust Sang

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btu508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221119PMC
November 2014

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Sci Transl Med 2014 Sep;6(252):252ra123

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.

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http://dx.doi.org/10.1126/scitranslmed.3009262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639PMC
September 2014

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Birth Defects Res A Clin Mol Teratol 2014 Apr 7;100(4):314-8. Epub 2014 Apr 7.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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http://dx.doi.org/10.1002/bdra.23239DOI Listing
April 2014

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

J Med Genet 2013 Sep 24;50(9):579-84. Epub 2013 May 24.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1136/jmedgenet-2013-101659DOI Listing
September 2013

P53 binding sites in transposons.

Front Genet 2012 20;3:40. Epub 2012 Mar 20.

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics Berlin, Germany.

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http://dx.doi.org/10.3389/fgene.2012.00040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308033PMC
October 2012

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads.

Bioinformatics 2012 Apr 1;28(7):1024-5. Epub 2012 Feb 1.

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bts064DOI Listing
April 2012

CpG deamination creates transcription factor-binding sites with high efficiency.

Genome Biol Evol 2011 19;3:1304-11. Epub 2011 Oct 19.

Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1093/gbe/evr107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228489PMC
March 2012

Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators.

Gene 2011 Mar 13;473(2):139-49. Epub 2010 Dec 13.

Key Laboratory of Aquatic Biodiversity and Conservation Biology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan, China.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119100045
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http://dx.doi.org/10.1016/j.gene.2010.11.011DOI Listing
March 2011

Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity.

BMC Evol Biol 2010 Feb 19;10:55. Epub 2010 Feb 19.

Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1186/1471-2148-10-55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2831893PMC
February 2010

Methylation and deamination of CpGs generate p53-binding sites on a genomic scale.

Trends Genet 2009 Feb 26;25(2):63-6. Epub 2008 Dec 26.

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1016/j.tig.2008.11.005DOI Listing
February 2009

Systems-level evidence of transcriptional co-regulation of yeast protein complexes.

J Comput Biol 2009 Feb;16(2):331-9

Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.

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http://dx.doi.org/10.1089/cmb.2008.17TTDOI Listing
February 2009

Exonization of active mouse L1s: a driver of transcriptome evolution?

BMC Genomics 2007 Oct 26;8:392. Epub 2007 Oct 26.

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1186/1471-2164-8-392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2176070PMC
October 2007

Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis.

Endocrinology 2007 Feb 2;148(2):693-704. Epub 2006 Nov 2.

Division of Endocrine Research, Department of Medicine Innenstadt, University Hospital Munich, Ziemssenstrasse 1, D-80336 Munich, Germany.

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http://dx.doi.org/10.1210/en.2006-0681DOI Listing
February 2007

Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate.

FEBS Lett 2006 Jan 20;580(2):455-62. Epub 2005 Dec 20.

Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://doi.wiley.com/10.1016/j.febslet.2005.12.038
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http://dx.doi.org/10.1016/j.febslet.2005.12.038DOI Listing
January 2006

Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion.

Mol Cell Biol 2006 Jan;26(2):643-53

Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1128/MCB.26.2.643-653.2006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1346907PMC
January 2006

L1Base: from functional annotation to prediction of active LINE-1 elements.

Nucleic Acids Res 2005 Jan;33(Database issue):D498-500

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gki044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC539998PMC
January 2005

ECEPE proteins: a novel family of eukaryotic cysteine proteinases.

Trends Biochem Sci 2004 Oct;29(10):524-6

Interdisciplinary Centre for Mathematical and Computational Modelling, Warsaw University, Pawińskiego 5a, 02-106 Warsaw, Poland.

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http://linkinghub.elsevier.com/retrieve/pii/S096800040400204
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http://dx.doi.org/10.1016/j.tibs.2004.08.003DOI Listing
October 2004

A novel conserved family of nitric oxide synthase?

Trends Biochem Sci 2004 May;29(5):224-6

Department of Bioinformatics, University of Wuerzburg, Am Hubland, D-97074 Wuerzburg, Germany.

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http://dx.doi.org/10.1016/j.tibs.2004.03.005DOI Listing
May 2004

NO-bound myoglobin: structural diversity and dynamics of the NO ligand.

J Am Chem Soc 2004 Feb;126(7):1930-1

Department of Bioinformatics, University of Wuerzburg, Am Hubland, D-97074 Wuerzburg, Germany.

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http://dx.doi.org/10.1021/ja039086xDOI Listing
February 2004

In search of the prototype of nitric oxide synthase.

FEBS Lett 2003 Nov;554(1-2):1-5

Department of Bioinformatics, University of Würzburg, Am Hubland, D-97074 Würzburg, Germany.

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http://dx.doi.org/10.1016/s0014-5793(03)01081-0DOI Listing
November 2003