Peter Krawitz

Peter Krawitz

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Peter Krawitz

Peter Krawitz

Publications by authors named "Peter Krawitz"

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Identifying facial phenotypes of genetic disorders using deep learning.

Nat Med 2019 01 7;25(1):60-64. Epub 2019 Jan 7.

Division of Medical Genetics, A. I. du Pont Hospital for Children/Nemours, Wilmington, DE, USA.

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http://dx.doi.org/10.1038/s41591-018-0279-0DOI Listing
January 2019

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

J Inherit Metab Dis 2018 05 5;41(3):533-539. Epub 2018 Apr 5.

Institute of Human Genetics and Medical Genetics, 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/10.1007/s10545-018-0174-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959962PMC
May 2018

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Hum Mutat 2017 10 12;38(10):1394-1401. Epub 2017 Jun 12.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/humu.23268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180480PMC
October 2017

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.

Bioinformatics 2017 01 26;33(1):72-78. Epub 2016 Aug 26.

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

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btw550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408770PMC
January 2017

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.

Pediatr Rheumatol Online J 2016 Nov 24;14(1):63. Epub 2016 Nov 24.

Charité University Medicine Berlin, Institute of Medical Genetics and Human Genetics, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1186/s12969-016-0124-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122026PMC
November 2016

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.

Bioinformatics 2015 Nov 6;31(22):3577-83. Epub 2015 Aug 6.

Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany and.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btv457DOI Listing
November 2015

Key features and clinical variability of COG6-CDG.

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
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http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

The genomic birthday paradox: how much is enough?

Hum Mutat 2015 Oct 20;36(10):989-97. Epub 2015 Aug 20.

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

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http://dx.doi.org/10.1002/humu.22848DOI Listing
October 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

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Am J Med Genet A 2014 Dec 20;164A(12):3170-5. Epub 2014 Oct 20.

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36772DOI Listing
December 2014

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 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

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.

Genome Med 2013 31;5(7):69. Epub 2013 Jul 31.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany ; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1186/gm473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978951PMC
May 2014

Jannovar: a java library for exome annotation.

Hum Mutat 2014 May 9;35(5):548-55. Epub 2014 Apr 9.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/humu.22531DOI Listing
May 2014

Improved exome prioritization of disease genes through cross-species phenotype comparison.

Genome Res 2014 Feb 25;24(2):340-8. Epub 2013 Oct 25.

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

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http://dx.doi.org/10.1101/gr.160325.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912424PMC
February 2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(13)00582-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300582
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http://dx.doi.org/10.1016/j.ajhg.2013.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928656PMC
February 2014

Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish.

Development 2013 Dec 20;140(24):4982-7. Epub 2013 Nov 20.

German Center for Neurodegenerative Diseases (DZNE), Schillerstrasse 44, 80336 Munich, Germany.

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http://dx.doi.org/10.1242/dev.099085DOI Listing
December 2013

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.

Eur J Hum Genet 2013 Oct 6;21(10):1105-11. Epub 2013 Mar 6.

1] Biomedical and Genetic Research Institute (IRGB), Milan Unit, National Research Council of Italy, Milan, Italy [2] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778353PMC
October 2013

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

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.

Bioinformatics 2012 Oct 23;28(19):2515-6. Epub 2012 Jul 23.

GeneTalk, Finckensteinallee 84, 12205 Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bts462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463119PMC
October 2012

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.

Nucleic Acids Res 2012 Mar 29;40(6):2426-31. Epub 2011 Nov 29.

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

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http://dx.doi.org/10.1093/nar/gkr1073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315291PMC
March 2012

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

J Biol Chem 2012 Feb 6;287(9):6318-25. Epub 2012 Jan 6.

Department of Immunoregulation, Research Institute for Microbial Diseases, and Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka, Japan 565-0871, Japan.

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http://www.jbc.org/content/287/9/6318.full.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M111.331090
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http://dx.doi.org/10.1074/jbc.M111.331090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307314PMC
February 2012

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Am J Med Genet A 2011 Aug 7;155A(8):1917-22. Epub 2011 Jul 7.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34102DOI Listing
August 2011

VZV meningitis following varicella vaccine.

J Clin Virol 2010 Aug 12;48(4):275-7. Epub 2010 Jun 12.

New York Presbyterian Hospital, Division of Infectious Diseases, New York, NY, USA.

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http://dx.doi.org/10.1016/j.jcv.2010.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391039PMC
August 2010

Microindel detection in short-read sequence data.

Bioinformatics 2010 Mar 9;26(6):722-9. Epub 2010 Feb 9.

Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin.

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http://dx.doi.org/10.1093/bioinformatics/btq027DOI Listing
March 2010

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Am J Hum Genet 2009 Oct;85(4):457-64

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

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http://dx.doi.org/10.1016/j.ajhg.2009.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756558PMC
October 2009

Entropy of complex relevant components of Boolean networks.

Phys Rev E Stat Nonlin Soft Matter Phys 2007 Sep 27;76(3 Pt 2):036115. Epub 2007 Sep 27.

Institute for Systems Biology, Seattle, Washington 98103, USA.

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http://dx.doi.org/10.1103/PhysRevE.76.036115DOI Listing
September 2007

Basin entropy in Boolean network ensembles.

Phys Rev Lett 2007 Apr 9;98(15):158701. Epub 2007 Apr 9.

Institute for Systems Biology, Seattle, Washington 98103, USA.

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http://dx.doi.org/10.1103/PhysRevLett.98.158701DOI Listing
April 2007

Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3.

J Biol Chem 2005 Nov 5;280(47):39515-23. Epub 2005 Jul 5.

Adolf-Butenandt-Institute, Department of Biochemistry, Laboratory for Alzheimer's and Parkinson's Disease Research, Ludwig-Maximilians-University, Schillerstrasse 44, 80336 Munich, Germany.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M501645200
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http://dx.doi.org/10.1074/jbc.M501645200DOI Listing
November 2005