Thomas C. Markello

机构：National Human Genome Research Institute, Office of the Director · ORCID：0000-0002-2298-9759

发表论文 152 篇 · 总被引 7467 次 · h-index 50

代表论文

• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021 · Genetics in Medicine · 被引 50)
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia (2023 · Brain · 被引 36)
• Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases (2021 · Genetics in Medicine · 被引 34)
• TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system (2023 · Proceedings of the National Academy of Sciences · 被引 31)
• Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2021 · Genetics in Medicine · 被引 30)
• Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 (2021 · Genetics in Medicine · 被引 26)