Sam Sheppeard
University of Washington(US)
Publications by Year
Research Areas
RNA Research and Splicing, Genomics and Rare Diseases, Genetic Neurodegenerative Diseases, Metabolism and Genetic Disorders, RNA modifications and cancer
Most-Cited Works
- → Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition(2025)28 cited
- → Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition(2023)7 cited
- → Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A(2023)7 cited
- → Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome(2023)3 cited
- → Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts(2024)2 cited