Nathan Goodman

TL;DR: Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four and demonstrate the value of complete genome sequencing in families.

TL;DR: The transcriptome of pancreatic islets is explored and a comprehensive and open access inventory of insulin-producing beta cell gene expression, the Beta Cell Gene Atlas (BCGA) is prepared, which contains basal gene expression level estimates in beta cells as well as in different cell types in human, rat and mouse pancreas.

TL;DR: An algorithm for the treatment of irritability in HD is proposed derived from expert preferences obtained through this survey, which presents survey results, reviews available irritability studies, and proposes an algorithm.

TL;DR: A consolidated T1D-oriented view of the complex data world that now confronts medical researchers and enables scientists to navigate from information they know to information that is new to them is provided.

TL;DR: The two most differentially expressed genes previously unknown in T1D literature (RIPK2 and ELF3) were found to modulate cytokine-induced apoptosis, supporting the experimental validation of the inferred regulatory network and providing a proof-of-concept for the proposed statistical inference approach.