P
Peter Bauer
Researcher at University of Tübingen
Publications - 140
Citations - 8810
Peter Bauer is an academic researcher from University of Tübingen. The author has contributed to research in topics: Spinocerebellar ataxia & Ataxia. The author has an hindex of 46, co-authored 140 publications receiving 7633 citations. Previous affiliations of Peter Bauer include University of Duisburg-Essen & University of Bonn.
Papers
More filters
Journal ArticleDOI
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
TL;DR: The identification of ataxia genes raises hope that essential pathogenetic mechanisms causing SCA will become more and more apparent, and will enable the development of rational therapies for this group of disorders, which currently can only be treated symptomatically.
Journal ArticleDOI
A draft genome of Yersinia pestis from victims of the Black Death
Kirsten I. Bos,Verena J. Schuenemann,G. Brian Golding,Hernán A. Burbano,Nicholas Waglechner,Brian K. Coombes,Joseph B. McPhee,Sharon N. DeWitte,Matthias Meyer,Sarah E. Schmedes,James W. Wood,David J. D. Earn,D. Ann Herring,Peter Bauer,Hendrik N. Poinar,Johannes Krause +15 more
TL;DR: A reconstructed ancient genome of Yersinia pestis is reported at 30-fold average coverage from Black Death victims securely dated to episodes of pestilence-associated mortality in London, England, 1348–1350, suggesting that contemporary Y. pestis epidemics have their origins in the medieval era.
Journal ArticleDOI
Guidelines for diagnostic next-generation sequencing.
Gert Matthijs,Erika Souche,Marielle Alders,Anniek Corveleyn,Sebastian Eck,Ilse Feenstra,Valerie Race,Erik A. Sistermans,Marc Sturm,Marjan M. Weiss,Helger G. Yntema,Egbert Bakker,Hans Scheffer,Peter Bauer +13 more
TL;DR: These guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.
Journal ArticleDOI
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Arndt Rolfs,Tobias Böttcher,Marlies Zschiesche,Peter Morris,Bryan Winchester,Peter Bauer,Peter Bauer,Uwe Walter,Eilhard Mix,Mathias Löhr,Klaus Harzer,Ulf Strauss,Jens Pahnke,Annette Grossmann,Reiner Benecke +14 more
TL;DR: A high frequency of Fabry disease is shown in a cohort of patients with cryptogenic stroke, which corresponds to about 1.2% in young stroke patients, especially in those with the combination of infarction in the vertebrobasilar artery system and proteinuria.
Journal ArticleDOI
Genome-wide comparison of medieval and modern Mycobacterium leprae
Verena J. Schuenemann,Pushpendra Singh,Tom A. Mendum,Ben Krause-Kyora,Günter Jäger,Kirsten I. Bos,Alexander Herbig,Christos Economou,Andrej Benjak,Philippe Busso,Almut Nebel,Jesper L. Boldsen,Anna Kjellström,Huihai Wu,Graham R. Stewart,G. Michael Taylor,Peter Bauer,Oona Y.-C. Lee,Houdini H.T. Wu,David E. Minnikin,Gurdyal S. Besra,Katie Tucker,Simon Roffey,Samba O. Sow,Stewart T. Cole,Kay Nieselt,Johannes Krause +26 more
TL;DR: The origins of leprosy bacilli are probed by using a genomic capture-based approach on DNA obtained from skeletal remains from the 10th to 14th centuries, suggesting a link between the middle-eastern and medieval European strains, and remarkable genomic conservation during the past 1000 years.