Birgit Budde

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 252 citations

Biology, Plant Biology, Genetics +5

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth et al. · Nature Genetics · 2008 · 251 citations

Genetic Disorder, Natural Sciences, Genetics +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 · 156 citations · Full text

Biology, Gerodermia Osteodysplastica, Somatic Variant +8

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 · 138 citations · Full text

Glomerular Disease, Genetics, Renal Pathology +22

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

Birgit Budde, Priska Binner, Stephan Waldmüller et al. · PLoS ONE · 2007 · 132 citations · Full text