Author
Meyer Children's HospitalORCID 0000-0002-8326-6378Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Danila Di Meo, Michele Sorelli, Josephine Ramazzotti…·Irene Costantini
This paper develops a 3D imaging pipeline for automated quantitative cellular phenotyping of FFPE human brain tissues, revealing cytoarchitectural features in patients with cortical development malformations.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas
This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.
Changuk Chung, Xiaoxu Yang, Taejeong Bae…·Eduardo Maury
This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.
Filomena Pirozzi, Matthew Berkseth, Rylee Shear…·Ghayda Mirzaa
The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.
Irene Costantini, Giacomo Mazzamuto, Matteo Roffilli…·Francesco Saverio Pavone
This paper introduces a pipeline for 3D analysis of human brain cytoarchitecture at micrometer resolution, enabling quantitative evaluation of neuronal density and volume across different brain regions and subjects.