Manuela Priolo

Naples, 80131, Italy

Last Updated: 09/26/2026

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Found 51 publications

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

Journal: Genes

Published: May 18, 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Journal: Clinical genetics

Published: November 14, 2025

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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

Published: September 15, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Journal: Genes

Published: August 22, 2025

The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.

The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.

Journal: The application of clinical genetics

Published: June 17, 2025

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Journal: Human molecular genetics

Published: June 10, 2025

Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.

Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.

Journal: Children (Basel, Switzerland)

Published: January 16, 2025

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Journal: Genes

Published: December 30, 2024

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Journal: European journal of human genetics : EJHG

Published: December 05, 2024

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.

Journal: Clinical genetics

Published: November 17, 2024

Showing 1-12 of 51

Last Updated: 09/26/2026