Luigina Spaccini

Milan, 20122, Italy

Last Updated: 09/26/2026

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Found 63 publications

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Journal: Human genetics

Published: October 30, 2025

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Journal: International journal of neonatal screening

Published: August 14, 2025

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

Journal: JIMD reports

Published: August 01, 2025

The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review.

The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review.

Journal: Pediatric neurology

Published: May 12, 2025

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

Journal: Frontiers in physiology

Published: April 23, 2025

Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review.

Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review.

Journal: Cerebellum (London, England)

Published: March 07, 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

Monochorionic Diamniotic Twins with Sex Discordance: Case Series.

Monochorionic Diamniotic Twins with Sex Discordance: Case Series.

Journal: Diagnostics (Basel, Switzerland)

Published: December 03, 2024

Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes.

Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes.

Journal: Children (Basel, Switzerland)

Published: March 10, 2024

Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype.

Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype.

Journal: Neurology. Genetics

Published: March 08, 2024

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.

Journal: Frontiers in neurology

Published: January 25, 2024

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Journal: International journal of molecular sciences

Published: December 30, 2023

Showing 1-12 of 63

Last Updated: 09/26/2026