Bernd Timmermann

TL;DR: The mechanism underlying a novel missense mutation in HOXD13 (Q317K) associated with a complex hand and foot malformation phenotype is elucidated andGene expression analysis and functional assays using in vivo overexpression studies confirm that the mutation results in a partial conversion of HOxD13 into a TF with bicoid/PITX1 properties.

TL;DR: It is concluded that retrieval, collection systems and addition of cAMP modulators can affect oocyte developmental competence, which is reflected not only in blastocyst rates but also in global DNA methylation and gene expression patterns.

TL;DR: The targeted enrichment and deep sequencing for exons of Usher genes is described and the costs and workload of this approach compared to Sanger sequencing are compared and the described diagnostic approach is fast and cost‐effective with a high molecular diagnostic yield.

TL;DR: This work directly microdissected the target region in metaphase chromosomes, amplified it by degenerate oligonucleotide-primed PCR, and obtained sufficient material of high quality for high-throughput sequencing, which is uniquely suited for situations in which the sequence of a reference region of the genome is not available.

TL;DR: This to the authors' knowledge most comprehensive study on anthracycline cardiotoxicity demonstrates a reproducible workflow for molecular medicine and serves as a template for detecting adverse drug responses from complex omics data.