Author

Silvio Alessandro Di Gioia

Broad InstituteORCID 0000-0002-7235-5682Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adriano MagliiD· 1 shared Alan R. ShuldineriD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Aris BarasiD· 1 shared Aris N. EconomidesiD· 1 shared Asif Rasheed· 1 shared Ayeesha Kamran KamaliD· 1 shared Bin YeiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperNeuroscience

Adriano MagliORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays

Julie A. Jurgens, Paola M. Matos Ruiz, Jessica King, Emma E. Foster, Lindsay Berube, Wai Man Chan, Brenda J. Barry, Raehoon Jeong, Elisabeth Rothman, Mary C. Whitman, Sarah E. MacKinnon, Cristina Rivera Quiles, Brandon M. Pratt, Teresa Easterbrooks, Fiona M. Mensching, , Elizabeth C. Engle

The paper identifies three novel candidate genes for ocular congenital cranial dysinnervation disorders using zebrafish CRISPR screening and protein binding microarrays to assess variant functionality.

bioRxiv · Sep 12, 2024 · PreprintNeuroscience

NOTCH3 p.Arg1231Cys is Markedly Enriched in South Asians and Associated with Stroke

Juan L. Rodríguez-Flores, Shareef Khalid, Neelroop Parikshak, Asif Rasheed, Bin Ye, Manav Kapoor, Joshua Backman, Farshid Sepehrband, Silvio Alessandro Di Gioia, Sahar Gelfman, Tanima De, Nilanjana Banerjee, Deepika Sharma, Hector Martinez, Sofia Castaneda, , Danish Saleheen

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

medRxiv · Oct 5, 2023 · PreprintGenetic & Genomic Medicine