Author

Diego Lopergolo

University of SienaORCID 0000-0003-2256-0482Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aarno V. PalotieiD· 1 shared Alexander KolevzoniD· 1 shared Alfredo BruscoiD· 1 shared Andreas G. ChiocchettiiD· 1 shared Ángel CarracedoiD· 1 shared Antonio Maria PersicoiD· 1 shared Aparna BhaduriiD· 1 shared Astanand JugessuriD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Aarno V. PalotieORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

Valentina Salsi, Matteo Chiara, Sara Pini, Paweł Kuś, Lucia Ruggiero, Silvia Bonanno, Carmelo Rodolico, Stefano Carlo Previtali, Maria Grazia D’Angelo, Lorenzo Maggi, Diego Lopergolo, Marek Kimmel, Filippo Maria Santorelli, Graziano Pesole, Rossella Ginevra Tupler

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine R. Stevens, Jennifer G. Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, , Kaija Puura

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

Cell · Jan 1, 2019Peer-reviewedGenetics