Daniela Marchetti

Bergamo, 24127, Italy

Last Updated: 09/26/2026

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Found 20 publications

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Journal: Genes

Published: November 14, 2025

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Journal: Clinical genetics

Published: February 21, 2025

Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.

Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.

Journal: Frontiers in cardiovascular medicine

Published: August 25, 2024

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

Journal: Genes

Published: August 21, 2024

Double somatic mosaicism in Cornelia de Lange syndrome.

Double somatic mosaicism in Cornelia de Lange syndrome.

Journal: American journal of medical genetics. Part A

Published: October 26, 2023

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Journal: Molecular genetics & genomic medicine

Published: June 04, 2023

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Journal: Frontiers in genetics

Published: November 21, 2022

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Journal: Genes

Published: June 20, 2022

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Journal: American journal of medical genetics. Part A

Published: March 04, 2022

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

Journal: Prenatal diagnosis

Published: March 02, 2022

Rock around DYRK1A: Ethnic diversity, clinical challenges.

Rock around DYRK1A: Ethnic diversity, clinical challenges.

Journal: American journal of medical genetics. Part A

Published: February 14, 2022

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal: Journal of cardiovascular development and disease

Published: October 29, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026