Publications by authors named "S D Reich"
Genetic 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.