Author

Fiorenza Soli

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

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Alessandra GaspariniiD· 1 shared Alessandra MurgiaiD· 1 shared Angela PeroniD· 1 shared Cristina Marino‐BusljeiD· 1 shared Donatella MilaniiD· 1 shared Elisa Bettella· 1 shared Emanuela LeonardiiD· 1 shared Federica CescaiD· 1 shared

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2019-2019 · peak 1/yr

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1 shared paperGenetics

Alessandra GaspariniORCID

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1 paper

Recent·Most cited

GeneticsHuman MutationPeer-reviewedJun 18, 2019

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing

Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini…·Emanuela Leonardi

The paper develops a low-cost NGS gene panel for diagnosing intellectual disability and autism spectrum disorder, achieving a 27% diagnostic yield in 150 patients.

63 citationstop 3%

humanwhole-exome sequencing

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