Carla Papa

Via Conte Ruggero 73, EN
Troina, 94018, Italy

Last Updated: 09/26/2026

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Found 10 publications

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.

Journal: Journal of molecular neuroscience : MN

Published: March 11, 2026

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

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

Journal: International journal of molecular sciences

Published: March 02, 2026

Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.

Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.

Journal: Scientific reports

Published: July 14, 2025

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

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

Journal: International journal of molecular sciences

Published: July 11, 2025

Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.

Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.

Journal: Medicina (Kaunas, Lithuania)

Published: June 16, 2025

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

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

Journal: International journal of molecular sciences

Published: June 09, 2025

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

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

Journal: Medicina (Kaunas, Lithuania)

Published: February 26, 2025

Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders.

Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders.

Journal: Genes

Published: November 24, 2024

PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities.

PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities.

Journal: Genes

Published: July 09, 2024

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

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

Journal: Genes

Published: February 05, 2024

Showing 1-10 of 10

Last Updated: 09/26/2026