Maximilian Radtke

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

Julia Klau, Rami Abou Jamra, Maximilian Radtke et al. · European Journal of Human Genetics · 2021 · 36 citations · Full text

The spliceosome-associated protein Nrl1 suppresses homologous recombination-dependent R-loop formation in fission yeast

Lucia Aronica, Torben Kasparek, David Ruchman et al. · Nucleic Acids Research · 2015 · 27 citations · Full text

A complex immunodeficiency is based on U1 snRNP‐mediated poly(A) site suppression

Jörg Langemeier, Eva-Maria Schrom, Alona Rabner et al. · The EMBO Journal · 2012 · 26 citations · Full text

<scp> <i>ZMYND11</i> </scp> variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Stephanie Oates, Michael Absoud, Sushma Goyal et al. · Clinical Genetics · 2021 · 20 citations · Full text