Publications by authors named "Leonie Carstensen"

Introduction:  Minimally invasive surgery skill laboratories are indispensable in training, especially for complex procedural skills such as intracorporal suturing and knot tying (ICKT). However, maintaining a laboratory is expensive, and specially trained teachers are in short supply. During the COVID-19 pandemic, in-person instruction has reduced to almost zero, while model learning via video instruction (VID) has become an integral part of medical education.

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Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants accounting for disease phenotype are identified only in a minority of cases, and the identification of novel disease-relevant genes remains challenging. In order to identify and to validate a potential disease-causing relevance of novel HSCR candidate genes, we established a complementary study approach, combining whole exome sequencing (WES) with transcriptome analysis of murine embryonic ENS-related tissues, literature and database searches, in silico network analyses, and functional readouts using candidate gene-specific genome-edited cell clones.

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