Research

Live-imaging of revertant and therapeutically restored dystrophin in the Dmd^EGFP-mdx mouse model for Duchenne muscular dystrophy.
Petkova MV, Stantzou A, Morin A, Petrova O, Morales-Gonzalez S, Seifert F, Bellec-Dyevre J, Manoliu T, Goyenvalle A, Garcia L, Richard I, Laplace-Builhé C, Schuelke M, Amthor H. Neuropathol Appl Neurobiol. 2020 Jun.

A Spontaneous Missense Mutation in the Chromodomain Helicase DNA-binding Protein 8 (CHD8) Gene: A Novel Association With Congenital Myasthenic Syndrome.
Lee CY, Petkova M, Morales-Gonzalez S, Gimber N, Schmoranzer J, Meisel A, Böhmerle W, Stenzel W, Schuelke M, Schwarz JM. Neuropathol Appl Neurobiol. 2020 Apr 8.

Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti–N‐Methyl‐D‐Aspartate Receptor Encephalitis. Bartels F, Krohn S, Nikolaus M, Johannsen J, Wickström R, Schimmel M, Häusler M, Berger A, Breu M, Blankenburg M, Stoffels J, Hendricks O, Bernert G, Kurlemann G, Knierim E, Kaindl A, Rostásy K, Finke C. Ann Neurol. 2020.

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.
Nikolaus M, Tietze A, Schweizer L, Kaindl AM, Stenzel W, Schuelke M, Knierim E. Brain Dev. 2019 Nov.

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.

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.

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.

Phenotero: Annotate as you write.
Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S. Clin Genet. 2019 Feb.

N‐methyl‐D‐aspartate receptor dysfunction by unmutated human antibodies against the NR1 subunit. Wenke NK, Kreye J, Andrzejak E, Casteren A, Leubner J, Murgueitio MS, Reincke SM, Secker C, Schmidl L, Geis C, Ackermann F, Nikolaus M, Garner CC, Wardemann H, Wolber G, Prüss H. Annals of Neurology. 2019.

CSF reactivity in GABAA receptor antibody encephalitis - Immunocytochemical distribution in the murine brain.
Nikolaus M, Kreye J, Turko P, Vida I, Knierim E, Prüss H. Brain Research. 2018

Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child.
Nikolaus M, Jackowski-Dohrmann S, Prüss H, Schuelke M, Knierim E. Neurology. 2018

Severe GABAA receptor encephalitis without seizures: A paediatric case successfully treated with early immunomodulation. Nikolaus M, Knierim E, Meisel C, Kreye J, Prüss H, Schnabel D, Kallinich T. European Journal of Paediatric. 2018

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.
Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M. Mitochondrion. 2017 Nov.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Am J Hum Genet. 2016

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.
 

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.

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.
Knierim E, Seelow D, Gill E, von Moers A, Schuelke M. Mitochondrion. 2015 Jan.

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.

MutationTaster2: mutation prediction for the deep-sequencing age.
Schwarz JM, Cooper DN, Schuelke M, Seelow D. Nat Methods. 2014 Apr.

Improved exome prioritization of disease genes through cross species phenotype comparison.
Robinson P, Köhler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall C, Lewis SE, Washington N, Bauer S, Seelow DS, Krawitz P, Gilissen C, Haendel M, Smedley D. Genome Res. 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.

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 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

HomozygosityMapper2012–bridging the gap between homozygosity mapping and deep sequencing.
Seelow D, Schuelke M. Nucleic Acids Res. 2012 Jul.

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.

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.

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.

MutationTaster evaluates disease-causing potential of sequence alterations.
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Nat Methods. 2010 Aug.

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.

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, KärppäM, 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..

HomozygosityMapper - an interactive approach to homozygosity mapping.
Seelow D, Schuelke M, Hildebrandt F, Nürnberg P. Nucleic Acids Res. 2009 Jul.

FragIdent - Automatic identification and characterisation of cDNA-fragments.
Seelow D, Goehler H, Hoffmann K. BMC Genomics. 2009 Mar.

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.

GeneDistiller – distilling candidate genes from linkage intervals.
Seelow D, Schwarz JM, Schuelke M. PLoS ONE. 2008.

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.

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.

AssociationDB: Web-based exploration of genomic association.
Seelow D, Hoffmann K, Lindner T. Bioinformatics. 2007 Oct.

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 Aug.

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 Jun.

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.

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.

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.