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Items: 37


RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Schwarz JM, Hombach D, Köhler S, Cooper DN, Schuelke M, Seelow D.

Nucleic Acids Res. 2019 Jul 2;47(W1):W106-W113. doi: 10.1093/nar/gkz327.


MutationDistiller: user-driven identification of pathogenic DNA variants.

Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D.

Nucleic Acids Res. 2019 Jul 2;47(W1):W114-W120. doi: 10.1093/nar/gkz330.


De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ, Seelow D, Knierim E, Stenzel W, Kihara A, Schuelke M.

J Med Genet. 2019 Mar;56(3):164-175. doi: 10.1136/jmedgenet-2018-105711. Epub 2018 Nov 28.


Phenotero: Annotate as you write.

Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S.

Clin Genet. 2019 Feb;95(2):287-292. doi: 10.1111/cge.13471. Epub 2018 Dec 7.


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

Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A.

Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7. Review.


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

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D.

BMC Genomics. 2016 Jul 20;17(1):502. No abstract available.


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

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D.

BMC Genomics. 2016 May 21;17:388. doi: 10.1186/s12864-016-2729-8. Erratum in: BMC Genomics. 2016 Jul 20;17(1):502.


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

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M.

Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec.


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

Stade B, Seelow D, Thomsen I, Krawczak M, Franke A.

BMC Genomics. 2014;15 Suppl 4:S8. doi: 10.1186/1471-2164-15-S4-S8. Epub 2014 May 20.


MutationTaster2: mutation prediction for the deep-sequencing age.

Schwarz JM, Cooper DN, Schuelke M, Seelow D.

Nat Methods. 2014 Apr;11(4):361-2. doi: 10.1038/nmeth.2890. No abstract available.


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

Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D.

Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25.


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

Knierim E, Schwarz JM, Schuelke M, Seelow D.

J Med Genet. 2013 Aug;50(8):529-33. doi: 10.1136/jmedgenet-2012-101497. Epub 2013 May 31.


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

Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A.

Matrix Biol. 2013 Oct-Nov;32(7-8):387-92. doi: 10.1016/j.matbio.2013.05.001. Epub 2013 May 9.


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

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM.

Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25.


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

Seelow D, Schuelke M.

Nucleic Acids Res. 2012 Jul;40(Web Server issue):W516-20. doi: 10.1093/nar/gks487. Epub 2012 Jun 4.


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

Knierim E, Lucke B, Schwarz JM, Schuelke M, Seelow D.

PLoS One. 2011;6(11):e28240. doi: 10.1371/journal.pone.0028240. Epub 2011 Nov 30.


Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K.

Am J Hum Genet. 2011 Jul 15;89(1):15-27. doi: 10.1016/j.ajhg.2011.05.021.


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

Kropatsch R, Petrasch-Parwez E, Seelow D, Schlichting A, Gerding WM, Akkad DA, Epplen JT, Dekomien G.

Mol Cell Probes. 2010 Dec;24(6):357-63. doi: 10.1016/j.mcp.2010.07.007. Epub 2010 Aug 4.


MutationTaster evaluates disease-causing potential of sequence alterations.

Schwarz JM, Rödelsperger C, Schuelke M, Seelow D.

Nat Methods. 2010 Aug;7(8):575-6. doi: 10.1038/nmeth0810-575. No abstract available.


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

Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M.

PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874.


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

O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F.

J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. Erratum in: J Clin Invest. 2010 Apr;120(4):1362. Jackson, Peter [corrected to Jackson, Peter K].


HomozygosityMapper--an interactive approach to homozygosity mapping.

Seelow D, Schuelke M, Hildebrandt F, Nürnberg P.

Nucleic Acids Res. 2009 Jul;37(Web Server issue):W593-9. doi: 10.1093/nar/gkp369. Epub 2009 May 21.


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

Seelow D, Goehler H, Hoffmann K.

BMC Genomics. 2009 Mar 2;10:95. doi: 10.1186/1471-2164-10-95.


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, Schoeb DS, Ovunc B, 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. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23.


GeneDistiller--distilling candidate genes from linkage intervals.

Seelow D, Schwarz JM, Schuelke M.

PLoS One. 2008;3(12):e3874. doi: 10.1371/journal.pone.0003874. Epub 2008 Dec 5.


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. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23.


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. doi: 10.1016/j.ajhg.2007.11.006.


AssociationDB: web-based exploration of genomic association.

Seelow D, Hoffmann K, Lindner TH.

Bioinformatics. 2007 Oct 1;23(19):2643-4. Epub 2007 Jul 27.


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, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M.

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


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, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO.

Am J Hum Genet. 2007 Jun;80(6):1162-70. Epub 2007 Apr 18. Erratum in: Am J Hum Genet. 2007 Nov;81(5):1114. Josifiova, Dragana [corrected to Josifova, Dragana].


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, Nürnberg G, Schild HH, Nürnberg 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, Nürnberg 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, Müller 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, Nürnberg 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, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg 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. Epub 2003 May 12.


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

Stöber G, Seelow D, Rüschendorf F, Ekici A, Beckmann H, Reis A.

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


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