D
Dominik Seelow
Researcher at Charité
Publications - 63
Citations - 10194
Dominik Seelow is an academic researcher from Charité. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 23, co-authored 53 publications receiving 8822 citations. Previous affiliations of Dominik Seelow include Humboldt University of Berlin & Free University of Berlin.
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Journal ArticleDOI
MutationTaster2: mutation prediction for the deep-sequencing age
TL;DR: This method takes advantage of the high hybridization efficiency of FISH and the fact that base-pair resolution is usually not needed to uniquely identify a transcript, and will enable the transcriptome to be directly imaged at single-cell resolution in complex samples such as brain tissue.
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MutationTaster evaluates disease-causing potential of sequence alterations
TL;DR: MutationTaster allows the efficient filtering of NGS data for alterations with high disease-causing potential and provides Perl scripts that can process data from all major platforms (Roche 454, Illumina Genome Analyzer and ABI SOLiD).
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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Peter N. Robinson,Sebastian Köhler,Sebastian Bauer,Dominik Seelow,Denise Horn,Stefan Mundlos +5 more
TL;DR: A Human Phenotype Ontology with over 8000 terms representing individual phenotypic anomalies and all clinical entries in Online Mendelian Inheritance in Man with the terms of the HPO are annotated.
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
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 A. Drummond,Dontscho Kerjaschki,Rüdiger Waldherr,Alexander Dietrich,Fatih Ozaltin,Aysin Bakkaloglu,Roxana Cleper,Roxana Cleper,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Martin Pohl,Martin Griebel,Alexey N. Tsygin,Alper Soylu,Dominik N. Müller,Caroline S. Sorli,Tom D. Bunney,Matilda Katan,Jinhong Liu,Massimo Attanasio,John F. O'Toole,Katrin Hasselbacher,Bettina E. Mucha,Edgar A. Otto,Rannar Airik,Andreas Kispert,Grant G. Kelley,Alan V. Smrcka,Thomas Gudermann,Lawrence B. Holzman,Peter Nürnberg,Friedhelm Hildebrandt +48 more
TL;DR: These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotsic syndrome.
Journal ArticleDOI
Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement
Martin Konrad,André 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 Jüppner,Sevcan A. Bakkaloglu,Matthias A. Hediger,Sabina Gallati,Stephan C.F. Neuhauss,Peter Nürnberg,Stefanie Weber +22 more
TL;DR: The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudin-19 for normal renal tubular function and undisturbed organization and development of the retina.