Giovanna Traficante

Florence, Italy

Last Updated: 09/26/2026

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Found 16 publications

A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.

A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.

Journal: Journal of child neurology

Published: June 04, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Journal: Endocrine connections

Published: June 14, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 03, 2024

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Journal: Human mutation

Published: December 06, 2021

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Journal: HGG advances

Published: July 12, 2021

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.

Journal: Frontiers in pediatrics

Published: June 29, 2021

Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

Journal: Molecular vision

Published: March 20, 2021

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Journal: Human genetics

Published: August 04, 2020

Genetic counseling during COVID-19 pandemic: Tuscany experience.

Genetic counseling during COVID-19 pandemic: Tuscany experience.

Journal: Molecular genetics & genomic medicine

Published: May 29, 2020

Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature.

Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature.

Journal: Breast cancer research and treatment

Published: March 07, 2018

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Journal: Kidney international

Published: September 12, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026