Peter M Krawitz

Peter M Krawitz

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Peter M Krawitz

Peter M Krawitz

Publications by authors named "Peter M Krawitz"

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30Publications

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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

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

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

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

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

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