Publications by authors named "Dominik Seelow"

39Publications

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Eur J Med Genet 2020 Sep 4;63(9):103973. Epub 2020 Jun 4.

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

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September 2020

Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers.

Nucleic Acids Res 2020 06;48(10):5306-5317

The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.

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June 2020

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Nucleic Acids Res 2019 07;47(W1):W106-W113

Centrum für Therapieforschung, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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July 2019

MutationDistiller: user-driven identification of pathogenic DNA variants.

Nucleic Acids Res 2019 07;47(W1):W114-W120

Berliner Institut für Gesundheitsforschung (BIH), Berlin, Germany Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany.

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July 2019

Phenotero: Annotate as you write.

Clin Genet 2019 02 7;95(2):287-292. Epub 2018 Dec 7.

NeuroCure Clinical Research Center, Charité Universitätsmedizin, Berlin, Germany.

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February 2019

Erratum to: A systematic, large-scale comparison of transcription factor binding site models.

BMC Genomics 2016 07 20;17(1):502. Epub 2016 Jul 20.

Department of Neuropaediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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July 2016

A systematic, large-scale comparison of transcription factor binding site models.

BMC Genomics 2016 05 21;17:388. Epub 2016 May 21.

Department of Neuropaediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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May 2016

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Neurol Genet 2015 Dec 22;1(4):e32. Epub 2015 Oct 22.

Departments of Neuropediatrics (G.S., D.S., F.S., S.M.-G., E.G., M.S.) and Neuropediatrics/SPZ (K.v.A.), NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany; the Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, Germany; and the DRK Children's Hospital Berlin (A.v.M.), Germany.

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December 2015

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Mitochondrion 2015 Jan 4;20:1-6. Epub 2014 Nov 4.

NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Germany. Electronic address:

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January 2015

MutationTaster2: mutation prediction for the deep-sequencing age.

Nat Methods 2014 Apr;11(4):361-2

1] Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany. [2] NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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April 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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February 2014

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.

Nucleic Acids Res 2012 Jul 4;40(Web Server issue):W516-20. Epub 2012 Jun 4.

NeuroCure Clinical Research Centre, Charité - Universitätsmedizin Berlin, Charitéplatz 1, D-10117 Berlin, Germany.

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July 2012

Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.

PLoS One 2011 30;6(11):e28240. Epub 2011 Nov 30.

NeuroCure Clinical Research Center (NCRC), Charité--Universitätsmedizin Berlin, Berlin, Germany.

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April 2012

HomozygosityMapper--an interactive approach to homozygosity mapping.

Nucleic Acids Res 2009 Jul 21;37(Web Server issue):W593-9. Epub 2009 May 21.

Department of Neuropaediatrics, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany.

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July 2009

FragIdent--automatic identification and characterisation of cDNA-fragments.

BMC Genomics 2009 Mar 2;10:95. Epub 2009 Mar 2.

Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz, 13353 Berlin, Germany.

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March 2009

GeneDistiller--distilling candidate genes from linkage intervals.

PLoS One 2008 5;3(12):e3874. Epub 2008 Dec 5.

Department of Neuropaediatrics, Charité University Medical School, Berlin, Germany.

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January 2009

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Am J Hum Genet 2008 Nov 23;83(5):610-5. Epub 2008 Oct 23.

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

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November 2008

AssociationDB: web-based exploration of genomic association.

Bioinformatics 2007 Oct 27;23(19):2643-4. Epub 2007 Jul 27.

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

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October 2007

d-matrix - database exploration, visualization and analysis.

BMC Bioinformatics 2004 Oct 28;5:168. Epub 2004 Oct 28.

Vertebrate Genomics, Max-Planck-Institute for Molecular Genetics, Ihnestr, 73, 14195 Berlin, Germany.

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October 2004

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.

Hum Genet 2002 Oct 29;111(4-5):323-30. Epub 2002 Aug 29.

Department of Psychiatry and Psychotherapy, University of Würzburg, Füchsleinstrasse 15, 97080 Würzburg, Germany.

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October 2002