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Salvatore Saccone

Full professor of Genetics

Università degli Studi di Napoli Federico II

Italy

Research Interests

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Professors in Italy Professors in Neuropsychology Neuropsychology professors in Italy

Articles (39)

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Collaborators (16)

Javier Morales Pérez

Profesor

Universidad Alfonso X el Sabio

SPAIN

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Arturo Sala

Brunel University London

UNITED KINGDOM

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Giuseppe Musumeci

University of Catania

ITALY

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Francesco Cali

Docenti di ruolo di IIa fascia

Università degli Studi di Enna Kore

ITALY

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Giovanni Malerba

Associate Professor

University of Verona

ITALY

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Paolo Scudieri

RtdB

University of Genoa

ITALY

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Francesca Bruno

Ricercatore tenure-track

Università degli Studi di Enna Kore

ITALY

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Cristina Sisu

UNITED KINGDOM

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Sabrina Tosi

Reader

Brunel University London

UNITED KINGDOM

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Velia D'Agata

Professore Ordinario

University of Catania

ITALY

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Concetta Federico

associate professor

University of Catania

ITALY

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Salvatore Giunta

University of Catania

ITALY

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Cristina Pina

Senior Lecturer (Associate Professor) in Biomedical Sciences

Brunel University London

UNITED KINGDOM

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Joanna Bridger

Professor

Brunel University London

UNITED KINGDOM

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Vincenzo Agostini

ITALY

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Agata Polizzi

Associate Professor of Pediatrics

University of Catania

ITALY

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Salvatore Saccone

Research Interests

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Articles (39)

Potential Link Between a Disruptive <i>CAPN6</i> Variant and Neurodevelopmental Disorders

Targeted Molecular Screening of Leishmania infantum in Sergentomyia minuta Populations from Southern Italy

Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics

Deciphering the Role of LNX2 as a Potential Contributor to Neurodevelopmental Disorders

Special Issue “Human Traits and Genomics: An Integrative Perspective”

A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing

Special Issue “Molecular Progression in Genome-Related Diseases”

Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors

Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility

Loss of AT8 Nuclear Tau as a Marker of Neuronal Ageing and Alzheimer’s Disease Progression

NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications

Cytogenetics and Cytogenomics in Clinical Diagnostics: Genome Architecture, Structural Variants, and Translational Applications

Origin and Evolution of Genes in Eukaryotes: Mechanisms, Dynamics, and Functional Implications

Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders

ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant

Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders

Potential Association of the <i>CSMD1</i> Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits

Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis

Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms

<i>PLEKHG1</i>: New Potential Candidate Gene for Periventricular White Matter Abnormalities

A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability

Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect

The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates

Moderate Physical Activity Increases the Expression of ADNP in Rat Brain

UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways

Alterations in Genome Organization in Lymphoma Cell Nuclei due to the Presence of the t(14;18) Translocation

Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Regulation of UV-B-Induced Inflammatory Mediators by Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) in Corneal Epithelium

Engineered model of t(7;12)(q36;p13) AML recapitulates patient-specific features and gene expression profiles

PHF21A Related Disorder: Description of a New Case

Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2

Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) Counteracts UV-B Radiation-Induced ROS Formation in Corneal Epithelium

Chromosomal Rearrangements and Altered Nuclear Organization: Recent Mechanistic Models in Cancer

Collaborators (16)

Javier Morales Pérez

Arturo Sala

Giuseppe Musumeci

Francesco Cali

Giovanni Malerba

Paolo Scudieri

Francesca Bruno

Cristina Sisu

Sabrina Tosi

Velia D'Agata

Concetta Federico

Salvatore Giunta

Cristina Pina

Joanna Bridger

Vincenzo Agostini

Agata Polizzi

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