Concepedia
Statistics
Publications
4
Citations
161
H-Index
Active since
2017
Affiliations
Northwestern University(Current)
Lurie Children's Hospital
The University of Melbourne
University of Washington
Boston Children's Hospital
Egidio Spinelli is an author at Northwestern University specializing in neuroscience, molecular neuroscience, and social sciences.
Top concepts
GeneticsMedicineNeurologyPathologyEpigeneticsNeuroscienceGenome EditingSocial SciencesSystems BiologyMolecular Genetics
Publications per year
2017–2021
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Kathleen M. Gorman, Esther Meyer, Detelina Grozeva et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text
Molecular Neuroscience, Progressive Epilepsy-dyskinesia, Neurological Disorder +5
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly
Nicholas Raun, Janette Mailo, Egidio Spinelli et al. · American Journal of Medical Genetics Part A · 2017 · 48 citations
Biallelic variants in <i>CTU2</i> cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
Ranad Shaheen, Paul R. Mark, Christopher T. Prevost et al. · Human Mutation · 2019 · 33 citations
Genetics, Dream-pl Phenotype, Genomic Mechanism +16
Pathogenic <scp> <i>MAST3</i> </scp> Variants in the <scp>STK</scp> Domain Are Associated with Epilepsy
Egidio Spinelli, Kyle R. Christensen, Emily Bryant et al. · Annals of Neurology · 2021 · 18 citations · Full text
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