	Neuropädiatrie Department of Neuropaediatrics

Dominik Seelow

address	Klinik für Pädiatrie mit Schwerpunkt Neurologie (Department of Neuropaediatrics) Charité - Campus Virchow Augustenburger Platz 1 D-13535 Berlin Germany

location on the campus	Mittelallee 8 basement room 01.3355
	Mittelallee 8 basement room 01.3355
phone	+49 30 450-566263
fax	+49 30 450-566920
email	dominik.seelow (AT) charite.de
www	http://neurocore.charite.de

Publications

HomozygosityMapper - an interactive approach to homozygosity mapping.
Seelow D, Schuelke M, Hildebrandt F, Nürnberg P.
Nucleic Acids Res. 2009 May 21.
http://www.homozygositymapper.org/

FragIdent - Automatic identification and characterisation of cDNA-fragments.
Seelow D, Goehler H, Hoffmann K.
BMC Genomics 2009, 10:95
http://compbio.charite.de/genetik/FragIdent/

A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA.
PLoS Genet. 2009 Jan;5(1):e1000353. Epub 2009 Jan 23.

GeneDistiller - distilling candidate genes from linkage intervals.
Seelow D, Schwarz JM, Schuelke M.
PLoS ONE. 2008;3(12):e3874. Epub 2008 Dec 5.
http://www.genedistiller.org/

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S.
Am J Hum Genet. 2008 Nov;83(5):610-5. Epub 2008 Oct 23.
http://www.human-phenotype-ontology.org/

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.
Am J Hum Genet. 2008 Feb;82(2):464-76)

AssociationDB: Web-based exploration of genomic association
Seelow D, Hoffmann K, Lindner T.
Bioinformatics. 2007 Oct 1;23(19):2643-4. Epub 2007 Jul 27.
http://compbio.charite.de/genetik/AssociationDB/

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
Attanasio M, Uhlenhaut NH, Sousa VH, O'toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nurnberg G, Becker C, Chudley AE, Nurnberg P, Hildebrandt F, Treier M.
Nat Genet. 2007 Jul 8; [Epub ahead of print]

RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial suture development and obesity
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Ørstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR, Wilkie AOM.
Am J Hum Genet. 2007; Epub 2007 Mar 8.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nurnberg G, Schild HH, Nurnberg P, Reis A, Frank J, Zerres K.
Am J Hum Genet. 2006 Dec;79(6):1105-9. Epub 2006 Oct 17.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F.
Nat Genet. 2006 Dec;38(12):1397-405. Epub 2006 Nov 5.

Mutations in the tight junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure and severe ocular involvement.
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Jueppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SCF, Nürnberg P, Weber S
Am J Hum Genet. 2006 Nov;79(5):949-57. Epub 2006 Sep 19.

d-matrix - database exploration, visualization and analysis.
Seelow D, Galli R, Mebus S, Sperling HP, Lehrach H, Sperling S.
BMC Bioinformatics. 2004 Oct 28;5:168

Genome-wide array analysis of normal and malformed human hearts.
Kaynak B, von Heydebreck A, Mebus S, Seelow D, Hennig S, Vogel J, Sperling HP, Pregla R, Alexi-Meskishvili V, Hetzer R, Lange PE, Vingron M, Lehrach H, Sperling S.
Circulation. 2003 May 20;107(19):2467-74

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
Stober G, Seelow D, Rüschendorf F, Ekici A, Beckmann H, Reis A.
Hum Genet. 2002 Oct;111(4-5):323-30. Epub 2002 Aug 29.

Funny awards

Poster award for a poster on AssociationDB
Jahrestagung 2007 der Deutschen Gesellschaft für Humangenetik in Bonn