Publications by authors named "Dominik Seelow"

39Publications

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

Authors:
Felix Boschann Björn Fischer-Zirnsak Thomas F Wienker Manuel Holtgrewe Dominik Seelow Birgit Eichhorn Steffi Döhnert Raimund Fahsold Denise Horn Luitgard M Graul-Neumann

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:

View Article and Find Full Text PDF
September 2020

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

Authors:
Robin Steinhaus Tonatiuh Gonzalez Dominik Seelow Peter N Robinson

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

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

View Article and Find Full Text PDF
June 2020

VarFish: comprehensive DNA variant analysis for diagnostics and research.

Authors:
Manuel Holtgrewe Oliver Stolpe Mikko Nieminen Stefan Mundlos Alexej Knaus Uwe Kornak Dominik Seelow Lara Segebrecht Malte Spielmann Björn Fischer-Zirnsak Felix Boschann Ute Scholl Nadja Ehmke Dieter Beule

Nucleic Acids Res 2020 07;48(W1):W162-W169

CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.

View Article and Find Full Text PDF
July 2020

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Authors:
Jana Marie Schwarz Daniela Hombach Sebastian Köhler David N Cooper Markus Schuelke Dominik Seelow

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.

View Article and Find Full Text PDF
July 2019

MutationDistiller: user-driven identification of pathogenic DNA variants.

Authors:
Daniela Hombach Markus Schuelke Ellen Knierim Nadja Ehmke Jana Marie Schwarz Björn Fischer-Zirnsak Dominik Seelow

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.

View Article and Find Full Text PDF
July 2019

De novo mutation in causes ichthyosis, , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

Authors:
Noomi Mueller Takayuki Sassa Susanne Morales-Gonzalez Joanna Schneider Daniel J Salchow Dominik Seelow Ellen Knierim Werner Stenzel Akio Kihara Markus Schuelke

J Med Genet 2019 03 28;56(3):164-175. Epub 2018 Nov 28.

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

View Article and Find Full Text PDF
March 2019

Phenotero: Annotate as you write.

Authors:
Daniela Hombach Jana M Schwarz Ellen Knierim Markus Schuelke Dominik Seelow Sebastian Köhler

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

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

View Article and Find Full Text PDF
February 2019

Harmonising phenomics information for a better interoperability in the rare disease field.

Authors:
Sylvie Maiella Annie Olry Marc Hanauer Valérie Lanneau Halima Lourghi Bruno Donadille Charlotte Rodwell Sebastian Köhler Dominik Seelow Simon Jupp Helen Parkinson Tudor Groza Michael Brudno Peter N Robinson Ana Rath

Eur J Med Genet 2018 Nov 7;61(11):706-714. Epub 2018 Feb 7.

INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014 Paris, France. Electronic address:

View Article and Find Full Text PDF
November 2018

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

Authors:
Daniela Hombach Jana Marie Schwarz Peter N Robinson Markus Schuelke Dominik Seelow

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

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

View Article and Find Full Text PDF
July 2016

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

Authors:
Daniela Hombach Jana Marie Schwarz Peter N Robinson Markus Schuelke Dominik Seelow

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

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

View Article and Find Full Text PDF
May 2016

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

Authors:
Gudrun Schottmann Dominik Seelow Franziska Seifert Susanne Morales-Gonzalez Esther Gill Katja von Au Arpad von Moers Werner Stenzel Markus Schuelke

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.

View Article and Find Full Text PDF
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.

Authors:
Ellen Knierim Dominik Seelow Esther Gill Arpad von Moers Markus Schuelke

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:

View Article and Find Full Text PDF
January 2015

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.

Authors:
Björn Stade Dominik Seelow Ingo Thomsen Michael Krawczak Andre Franke

BMC Genomics 2014 20;15 Suppl 4:S8. Epub 2014 May 20.

View Article and Find Full Text PDF
March 2015

MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:
Jana Marie Schwarz David N Cooper Markus Schuelke Dominik Seelow

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.

View Article and Find Full Text PDF
April 2014

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

Authors:
Peter N Robinson Sebastian Köhler Anika Oellrich Kai Wang Christopher J Mungall Suzanna E Lewis Nicole Washington Sebastian Bauer Dominik Seelow Peter Krawitz Christian Gilissen Melissa Haendel Damian Smedley

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;

View Article and Find Full Text PDF
February 2014

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.

Authors:
Ellen Knierim Jana Marie Schwarz Markus Schuelke Dominik Seelow

J Med Genet 2013 Aug 31;50(8):529-33. Epub 2013 May 31.

NeuroCure Clinical Research Center, Berlin, Germany.

View Article and Find Full Text PDF
August 2013

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

Authors:
Melanie Grosch Barbara Grüner Stephanie Spranger Adrian M Stütz Tobias Rausch Jan O Korbel Dominik Seelow Peter Nürnberg Heinrich Sticht Ekkehart Lausch Bernhard Zabel Andreas Winterpacht Andreas Tagariello

Matrix Biol 2013 Oct-Nov;32(7-8):387-92. Epub 2013 May 9.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.

View Article and Find Full Text PDF
July 2014

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Authors:
Hiromi Hirata Indrajit Nanda Anne van Riesen Gai McMichael Hao Hu Melanie Hambrock Marie-Amélie Papon Ute Fischer Sylviane Marouillat Can Ding Servane Alirol Melanie Bienek Sabine Preisler-Adams Astrid Grimme Dominik Seelow Richard Webster Eric Haan Alastair MacLennan Werner Stenzel Tzu Ying Yap Alison Gardner Lam Son Nguyen Marie Shaw Nicolas Lebrun Stefan A Haas Wolfram Kress Thomas Haaf Elke Schellenberger Jamel Chelly Géraldine Viot Lisa G Shaffer Jill A Rosenfeld Nancy Kramer Rena Falk Dima El-Khechen Luis F Escobar Raoul Hennekam Peter Wieacker Christoph Hübner Hans-Hilger Ropers Jozef Gecz Markus Schuelke Frédéric Laumonnier Vera M Kalscheuer

Am J Hum Genet 2013 May 25;92(5):681-95. Epub 2013 Apr 25.

Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan.

View Article and Find Full Text PDF
May 2013

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

Authors:
Dominik Seelow Markus Schuelke

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.

View Article and Find Full Text PDF
July 2012

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

Authors:
Ellen Knierim Barbara Lucke Jana Marie Schwarz Markus Schuelke Dominik Seelow

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

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

View Article and Find Full Text PDF
April 2012

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

Authors:
Sevjidmaa Baasanjav Lihadh Al-Gazali Taishi Hashiguchi Shuji Mizumoto Bjoern Fischer Denise Horn Dominik Seelow Bassam R Ali Samir A A Aziz Ruth Langer Ahmed A H Saleh Christian Becker Gudrun Nürnberg Vincent Cantagrel Joseph G Gleeson Delphine Gomez Jean-Baptiste Michel Sigmar Stricker Tom H Lindner Peter Nürnberg Kazuyuki Sugahara Stefan Mundlos Katrin Hoffmann

Am J Hum Genet 2011 Jul;89(1):15-27

Institute of Medical Genetics, Charité University Medicine, Berlin, Germany.

View Article and Find Full Text PDF
July 2011

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.

Authors:
Regina Kropatsch Elisabeth Petrasch-Parwez Dominik Seelow Annegrit Schlichting Wanda M Gerding Denis A Akkad Joerg T Epplen Gabriele Dekomien

Mol Cell Probes 2010 Dec 4;24(6):357-63. Epub 2010 Aug 4.

Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801 Bochum, Germany.

View Article and Find Full Text PDF
December 2010

MutationTaster evaluates disease-causing potential of sequence alterations.

Authors:
Jana Marie Schwarz Christian Rödelsperger Markus Schuelke Dominik Seelow

Nat Methods 2010 Aug;7(8):575-6

View Article and Find Full Text PDF
August 2010

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

Authors:
Anna Rajab Volker Straub Liza J McCann Dominik Seelow Raymonda Varon Rita Barresi Anne Schulze Barbara Lucke Susanne Lützkendorf Mohsen Karbasiyan Sebastian Bachmann Simone Spuler Markus Schuelke

PLoS Genet 2010 Mar 12;6(3):e1000874. Epub 2010 Mar 12.

Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman.

View Article and Find Full Text PDF
March 2010

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Authors:
John F O'Toole Yangjian Liu Erica E Davis Christopher J Westlake Massimo Attanasio Edgar A Otto Dominik Seelow Gudrun Nurnberg Christian Becker Matti Nuutinen Mikko Kärppä Jaakko Ignatius Johanna Uusimaa Salla Pakanen Elisa Jaakkola Lambertus P van den Heuvel Henry Fehrenbach Roger Wiggins Meera Goyal Weibin Zhou Matthias T F Wolf Eric Wise Juliana Helou Susan J Allen Carlos A Murga-Zamalloa Shazia Ashraf Moumita Chaki Saskia Heeringa Gil Chernin Bethan E Hoskins Hassan Chaib Joseph Gleeson Takehiro Kusakabe Takako Suzuki R Elwyn Isaac Lynne M Quarmby Bryan Tennant Hisashi Fujioka Hannu Tuominen Ilmo Hassinen Hellevi Lohi Judith L van Houten Agnes Rotig John A Sayer Boris Rolinski Peter Freisinger Sethu M Madhavan Martina Herzer Florence Madignier Holger Prokisch Peter Nurnberg Peter K Jackson Peter Jackson Hemant Khanna Nicholas Katsanis Friedhelm Hildebrandt

J Clin Invest 2010 Mar 22;120(3):791-802. Epub 2010 Feb 22.

Department of Pediatrics, University of Michigan, Ann Arbor, 48109-5646, USA.

View Article and Find Full Text PDF
March 2010

HomozygosityMapper--an interactive approach to homozygosity mapping.

Authors:
Dominik Seelow Markus Schuelke Friedhelm Hildebrandt Peter Nürnberg

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.

View Article and Find Full Text PDF
July 2009

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

Authors:
Dominik Seelow Heike Goehler Katrin Hoffmann

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

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

View Article and Find Full Text PDF
March 2009

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Authors:
Friedhelm Hildebrandt Saskia F Heeringa Franz Rüschendorf Massimo Attanasio Gudrun Nürnberg Christian Becker Dominik Seelow Norbert Huebner Gil Chernin Christopher N Vlangos Weibin Zhou John F O'Toole Bethan E Hoskins Matthias T F Wolf Bernward G Hinkes Hassan Chaib Shazia Ashraf Dominik S Schoeb Bugsu Ovunc Susan J Allen Virginia Vega-Warner Eric Wise Heather M Harville Robert H Lyons Joseph Washburn James Macdonald Peter Nürnberg Edgar A Otto

PLoS Genet 2009 Jan 23;5(1):e1000353. Epub 2009 Jan 23.

Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan, United States of America.

View Article and Find Full Text PDF
January 2009

GeneDistiller--distilling candidate genes from linkage intervals.

Authors:
Dominik Seelow Jana Marie Schwarz Markus Schuelke

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

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

View Article and Find Full Text PDF
January 2009

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

Authors:
Peter N Robinson Sebastian Köhler Sebastian Bauer Dominik Seelow Denise Horn Stefan Mundlos

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.

View Article and Find Full Text PDF
November 2008

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Authors:
Anne Michalk Sigmar Stricker Jutta Becker Rosemarie Rupps Tapio Pantzar Jan Miertus Giovanni Botta Valeria G Naretto Catrin Janetzki Nausheen Yaqoob Claus-Eric Ott Dominik Seelow Dagmar Wieczorek Britta Fiebig Brunhilde Wirth Markus Hoopmann Marisa Walther Friederike Körber Markus Blankenburg Stefan Mundlos Raoul Heller Katrin Hoffmann

Am J Hum Genet 2008 Feb;82(2):464-76

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

View Article and Find Full Text PDF
February 2008

AssociationDB: web-based exploration of genomic association.

Authors:
Dominik Seelow Katrin Hoffmann Tom H Lindner

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.

View Article and Find Full Text PDF
October 2007

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.

Authors:
Massimo Attanasio N Henriette Uhlenhaut Vitor H Sousa John F O'Toole Edgar Otto Katrin Anlag Claudia Klugmann Anna-Corina Treier Juliana Helou John A Sayer Dominik Seelow Gudrun Nürnberg Christian Becker Albert E Chudley Peter Nürnberg Friedhelm Hildebrandt Mathias Treier

Nat Genet 2007 Aug 8;39(8):1018-24. Epub 2007 Jul 8.

Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA.

View Article and Find Full Text PDF
August 2007

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Authors:
Dagan Jenkins Dominik Seelow Fernanda S Jehee Chad A Perlyn Luis G Alonso Daniela F Bueno Dian Donnai Dragana Josifova Dragana Josifiova Irene M J Mathijssen Jenny E V Morton Karen Helene Orstavik Elizabeth Sweeney Steven A Wall Jeffrey L Marsh Peter Nurnberg Maria Rita Passos-Bueno Andrew O M Wilkie

Am J Hum Genet 2007 Jun 18;80(6):1162-70. Epub 2007 Apr 18.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article and Find Full Text PDF
June 2007

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Authors:
Bernward Hinkes Roger C Wiggins Rasheed Gbadegesin Christopher N Vlangos Dominik Seelow Gudrun Nürnberg Puneet Garg Rakesh Verma Hassan Chaib Bethan E Hoskins Shazia Ashraf Christian Becker Hans Christian Hennies Meera Goyal Bryan L Wharram Asher D Schachter Sudha Mudumana Iain Drummond Dontscho Kerjaschki Rüdiger Waldherr Alexander Dietrich Fatih Ozaltin Aysin Bakkaloglu Roxana Cleper Lina Basel-Vanagaite Martin Pohl Martin Griebel Alexey N Tsygin Alper Soylu Dominik Müller Caroline S Sorli Tom D Bunney Matilda Katan Jinhong Liu Massimo Attanasio John F O'toole Katrin Hasselbacher Bettina Mucha Edgar A Otto Rannar Airik Andreas Kispert Grant G Kelley Alan V Smrcka Thomas Gudermann Lawrence B Holzman Peter Nürnberg Friedhelm Hildebrandt

Nat Genet 2006 Dec 5;38(12):1397-405. Epub 2006 Nov 5.

Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA.

View Article and Find Full Text PDF
December 2006

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Authors:
Martin Konrad Andre Schaller Dominik Seelow Amit V Pandey Siegfried Waldegger Annegret Lesslauer Helga Vitzthum Yoshiro Suzuki John M Luk Christian Becker Karl P Schlingmann Marcel Schmid Juan Rodriguez-Soriano Gema Ariceta Francisco Cano Ricardo Enriquez Harald Juppner Sevcan A Bakkaloglu Matthias A Hediger Sabina Gallati Stephan C F Neuhauss Peter Nurnberg Stefanie Weber

Am J Hum Genet 2006 Nov 19;79(5):949-57. Epub 2006 Sep 19.

University Children's Hospital, Inselspital, Bern, Switzerland.

View Article and Find Full Text PDF
November 2006

d-matrix - database exploration, visualization and analysis.

Authors:
Dominik Seelow Raffaello Galli Siegrun Mebus Hans-Peter Sperling Hans Lehrach Silke Sperling

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

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

View Article and Find Full Text PDF
October 2004

Genome-wide array analysis of normal and malformed human hearts.

Authors:
Bogac Kaynak Anja von Heydebreck Siegrun Mebus Dominik Seelow Steffen Hennig Jan Vogel Hans-Peter Sperling Reinhard Pregla Vladimir Alexi-Meskishvili Roland Hetzer Peter E Lange Martin Vingron Hans Lehrach Silke Sperling

Circulation 2003 May 12;107(19):2467-74. Epub 2003 May 12.

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

View Article and Find Full Text PDF
May 2003

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

Authors:
Gerald Stöber Dominik Seelow Franz Rüschendorf Arif Ekici Helmut Beckmann André Reis

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.

View Article and Find Full Text PDF
October 2002