Publications by authors named "S M Reich"
This report describes the design, development, and optimization of an electrochemical deoxyfluorination of arenes using a tetrafluoropyridine-derived leaving group. NEt·3HF serves as the fluoride source, and the reactions are conducted using either constant potential or constant current electrolysis in an undivided electrochemical cell. Mechanistic studies support a net oxidative pathway, in which initial single-electron oxidation generates a radical cation intermediate that is trapped by fluoride.
View Article and Find Full Text PDFGenetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFBackground: Infections with fluconazole-resistant Candida parapsilosis have been increasing in Israeli hospitals with unclear implications for patient outcomes.
Objectives: To determine the frequency, mechanisms, molecular epidemiology, and outcomes of azole-resistant C. parapsilosis bloodstream infections in four hospitals in Israel.
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.