Thomas Schwarzmayr

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer et al. · Nature · 2013 · 2.1K citations · Full text

Human Variation, Genetics, Genomics +4

The genetic architecture of type 2 diabetes

Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich et al. · Nature · 2016 · 1.1K citations · Full text

Genetic Determinant, Genetics, Diabetes +6

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

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

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Felix Beuschlein, Sheerazed Boulkroun, Thomas Wieland et al. · Nature Genetics · 2013 · 552 citations · Full text

Hypertension, Somatic Mutations, Genetics +8