Lidia Larizza

Via Ariosto 13
Milan, 20145, Italy

Last Updated: 09/26/2026

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Found 108 publications

Special Issue "Human Traits and Genomics: An Integrative Perspective".

Special Issue "Human Traits and Genomics: An Integrative Perspective".

Journal: International journal of molecular sciences

Published: May 18, 2026

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

Journal: Scientific reports

Published: September 09, 2025

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease.

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease.

Journal: Frontiers in genetics

Published: September 11, 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

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.

Journal: International journal of molecular sciences

Published: August 01, 2024

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Journal: Frontiers in genetics

Published: July 29, 2024

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 26, 2024

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Journal: Frontiers in genetics

Published: December 19, 2023

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: October 10, 2023

From clinical findings to the pathomechanism of poikiloderma with neutropenia.

From clinical findings to the pathomechanism of poikiloderma with neutropenia.

Journal: British journal of haematology

Published: October 02, 2023

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics

Published: June 01, 2023

Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.

Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.

Journal: International journal of molecular sciences

Published: May 07, 2023

Showing 1-12 of 108

Last Updated: 09/26/2026