Giulia Rosti

Genoa, Italy

Last Updated: 09/26/2026

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Found 12 publications

Neuroimaging Abnormalities and Genotype-Phenotype Correlations in Noonan Syndrome: A Multicenter Cohort Study.

Neuroimaging Abnormalities and Genotype-Phenotype Correlations in Noonan Syndrome: A Multicenter Cohort Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 27, 2026

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

Journal: Prenatal diagnosis

Published: April 07, 2025

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

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

Published: December 16, 2024

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

Journal: NPJ genomic medicine

Published: July 23, 2024

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Journal: Prenatal diagnosis

Published: January 13, 2024

Abnormalities of pubertal development and gonadal function in Noonan syndrome.

Abnormalities of pubertal development and gonadal function in Noonan syndrome.

Journal: Frontiers in endocrinology

Published: April 27, 2023

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Journal: Molecular syndromology

Published: September 15, 2022

An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.

An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.

Journal: Birth defects research

Published: March 30, 2022

A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

Journal: Clinical case reports

Published: January 20, 2022

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.

Journal: Frontiers in genetics

Published: June 28, 2021

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Journal: Molecular genetics & genomic medicine

Published: September 02, 2020

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Journal: European journal of medical genetics

Published: June 28, 2018

Showing 1-12 of 12

Last Updated: 09/26/2026