Egidio Spinelli

机构：Western University, London Health Sciences Centre, Pediatrics and Genetics

发表论文 15 篇 · 总被引 237 次 · h-index 8

代表论文

• Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia (2019 · The American Journal of Human Genetics · 被引 67)
• Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly (2017 · American Journal of Medical Genetics Part A · 被引 49)
• Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34 (2019 · Human Mutation · 被引 39)
• Gut Microbiota, the Ketogenic Diet and Epilepsy (2018 · Pediatric Neurology Briefs · 被引 27)
• Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy (2021 · Annals of Neurology · 被引 18)
• Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation (2020 · American Journal of Medical Genetics Part A · 被引 11)