M. C. Aspromonte

发表

DisProt 7.0: a major update of the database of disordered proteins

Sonia Longhi, Silvio C. E. Tosatto, Arne Elofsson, 2016, Nucleic Acids Res..

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing

Silvio C. E. Tosatto, S. Tosatto, C. Marino-Buslje, 2019, bioRxiv.

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

Silvio C. E. Tosatto, Stephen J. Wilson, Lipika R. Pal, 2019, Human mutation.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

S. Tosatto, C. Marino-Buslje, S. Sartori, 2019, Human mutation.

DisProt 7.0: a major update of the database of disordered proteins

Daniel B. Roche, Damiano Piovesan, A. Dunker, 2016, Nucleic Acids Res..

DisProt 7.0: a major update of the database of disordered proteins

Daniel B. Roche, Damiano Piovesan, A. Dunker, 2016, Nucleic acids research.

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

M. Miano, S. Esposito, M. McEntagart, 2022, European Journal of Human Genetics.

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

R. Santarelli, P. Scimemi, F. Benedicenti, 2020, Journal of Human Genetics.

MobiDB: 10 years of intrinsically disordered proteins

Silvio C. E. Tosatto, Cristina Marino Buslje, Damiano Piovesan, 2022, Nucleic Acids Res..

Downregulation of GABAA Receptor Recycling Mediated by HAP1 Contributes to Neuronal Death in In Vitro Brain Ischemia

C. Duarte, M. C. Aspromonte, Miranda Mele, 2015, Molecular Neurobiology.

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

S. Sartori, D. Milani, A. Murgia, 2020, Frontiers in Neurology.

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

C. Pantaleoni, E. Cainelli, S. Sartori, 2020, Genes.

DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation

Silvio C. E. Tosatto, Cristina Marino Buslje, Konstantinos D. Tsirigos, 2021, Nucleic Acids Res..

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features

Silvio C. E. Tosatto, R. Michelucci, S. Tosatto, 2018, Epilepsy Research.

Alteration of GABAAR trafficking during cerebral ischemia: the role of Huntingtin-associated protein 1

M. C. Aspromonte, 2014 .

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Silvio C. E. Tosatto, S. Tosatto, C. Marino-Buslje, 2020, Human mutation.

The Gene Ontology knowledgebase in 2023

Silvio C. E. Tosatto, Steven J. Marygold, Suzi A Aleksander, 2023, Genetics.

DisProt in 2024: improving function annotation of intrinsically disordered proteins

Silvio C. E. Tosatto, Damiano Piovesan, M. C. Aspromonte, 2023, Nucleic acids research.

Best practices for the manual curation of intrinsically disordered proteins in DisProt

Silvio C. E. Tosatto, Damiano Piovesan, A. Chasapi, 2023, Database J. Biol. Databases Curation.

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

R. Santarelli, P. Scimemi, F. Benedicenti, 2020, Journal of Human Genetics.