Emanuela Ponzi

Bari, 70012, Italy

Last Updated: 09/26/2026

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Found 20 publications

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatr. Rep. 2026, 18, 14.

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatr. Rep. 2026, 18, 14.

Journal: Pediatric reports
Published: February 07, 2026

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Journal: Pediatric reports
Published: November 30, 2025

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.

Journal: Frontiers in genetics
Published: May 07, 2024

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.

Journal: Genes
Published: November 09, 2023

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Journal: Nature communications
Published: May 18, 2023

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Journal: Nature communications
Published: March 21, 2022

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Journal: Genes
Published: March 11, 2022

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Journal: Medicina (Kaunas, Lithuania)
Published: October 31, 2021

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.

Journal: Human molecular genetics
Published: September 16, 2021

Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.

Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.

Journal: Genes
Published: May 04, 2021

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Journal: Clinical genetics
Published: July 29, 2020

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.

Journal: Molecular genetics & genomic medicine
Published: July 15, 2019
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Last Updated: 09/26/2026