Concepedia

Birgit Budde

BB

Statistics

Publications

26

Citations

2.1K

H-Index

20

Active since

2006

Affiliations

University of Cologne(Current)

Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases

Charité - Universitätsmedizin Berlin

University Hospital Cologne

National Institute for Biotechnology and Genetic Engineering

Birgit Budde is an author at University of Cologne specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

2006–2022

26

Publications

26

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou et al. · Nature Genetics · 2007 · 376 citations · Full text

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth et al. · Nature Genetics · 2008 · 256 citations

, , +2

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

, , +5

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang et al. · Nature Genetics · 2008 · 158 citations · Full text

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Daniela A. Braun, Svjetlana Lovric, David Schapiro et al. · Journal of Clinical Investigation · 2018 · 144 citations · Full text

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