Elisabeth Graf
TUM Klinikum(DE)Helmholtz Zentrum München(DE)Centre for Biomedical Network Research on Rare Diseases(ES)Institute of Human Genetics(PL)Technical University of Munich(DE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Neurological diseases and metabolism
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease(2011)898 cited
- → Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia(2015)775 cited
- → An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics(2019)655 cited
- → Genetic diagnosis of Mendelian disorders via RNA sequencing(2017)584 cited
- → Mutations in the deubiquitinase gene USP8 cause Cushing's disease(2014)579 cited