Michele Pinelli
Federico II University Hospital(IT)University of Naples Federico II(IT)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Retinal Development and Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Parent-of-origin-specific signatures of de novo mutations(2016)366 cited
- → Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation(2015)259 cited
- → High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs(2016)122 cited
- → DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients(2008)112 cited
- → Paralog Studies Augment Gene Discovery: DDX and DHX Genes(2019)111 cited
- → An atlas of gene expression and gene co-regulation in the human retina(2016)85 cited
- → De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia