Publications by authors named "Stefania Boni"

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Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Maria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, Demetrio Baldo, Francesco Benedicenti, Stefania Boni

Hum Genet· March 2025

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Stefania Boni

Am J Hum Genet· September 2020

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Maria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Stefania Boni

Hum Mutat· June 2020

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A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Emanuela Leonardi, Mariagrazia Bellini, Maria C Aspromonte, Roberta Polli, Anna Mercante, Stefania Boni, Clementina Boniver

Genes (Basel)· March 2020

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Maria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Stefania Boni

Hum Mutat· September 2019

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Molecular characterization of 11 Italian patients with Darier disease.
Lucia Pedace, Luana Barboni, Erika Pozzetto, Ada Amantea, Giovanna Zambruno, Stefania Boni

Eur J Dermatol· September 2011

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The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Marina Grasso, Massimiliano Cecconi, Stefania Boni, Francesca Forzano, Maurizio Barbaresi

Mol Cell Probes· April 2010

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Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.
Isabella Mammi, Rosaria Teresa Basile, Silvano Bellato, Serena Belli, Francesco Benedicenti, Stefania Boni

Am J Med Genet A· September 2003

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