Neal Sondheimer
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, RNA modifications and cancer, RNA and protein synthesis mechanisms
Most-Cited Works
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Rnq1(2000)499 cited
- → Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans(2000)366 cited
- → The role of Sis1 in the maintenance of the [RNQ+] prion(2001)201 cited
- → Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy(2013)177 cited
- → Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation(2020)175 cited
- → Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury(2017)141 cited
- → Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [ PSI + ](2002)139 cited
- → Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP(2017)135 cited
- → Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing(2018)131 cited