Elisabeth Graf

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

Alexander Zimprich, Anna Benet‐Pagès, Walter Struhal et al. · The American Journal of Human Genetics · 2011 · 876 citations · Full text

Late-onset Parkinson Disease, Retromer Complex, Neurodegenerative Diseases +8

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

Ilias Angelidis, Lukas M. Simon, Isis E. Fernandez et al. · Nature Communications · 2019 · 647 citations · Full text

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

Martín Reincke, Silviu Sbiera, Akira Hayakawa et al. · Nature Genetics · 2014 · 573 citations

Disease Mechanism, Medicine, Genetics +4

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 566 citations · Full text