Emanuela Salzano

Palermo, Italy

Last Updated: 09/26/2026

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Found 17 publications

A novel spliceosomopathy caused by de novo SF3B3 variants.

A novel spliceosomopathy caused by de novo SF3B3 variants.

Journal: Genome medicine

Published: April 26, 2025

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Journal: European journal of medical genetics

Published: August 30, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.

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

Published: June 09, 2023

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Journal: Human genetics

Published: February 13, 2023

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.

Journal: Frontiers in neurology

Published: November 04, 2022

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.

Journal: Life (Basel, Switzerland)

Published: October 11, 2022

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

Journal: Italian journal of pediatrics

Published: July 06, 2022

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

Journal: International journal of molecular sciences

Published: February 17, 2022

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Journal: Italian journal of pediatrics

Published: March 18, 2020

Cornelia de Lange syndrome in diverse populations.

Cornelia de Lange syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: June 05, 2018

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Journal: American journal of medical genetics. Part A

Published: May 15, 2018

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Last Updated: 09/26/2026