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Nicoletta Resta

Full Professor Medical Genetics

University of Bari Aldo Moro

Italy

Research Interests

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Professors in Italy Professors in Biostatistics Biostatistics professors in Italy

About

Nicoletta Resta is an Assistant Professor at the University of Bari “Aldo Moro” in Italy. Her research focuses on genetic disorders, particularly in the context of epidermolysis bullosa, cardiomyopathies, and various acyl-CoA dehydrogenase deficiencies. She has contributed to significant advancements in understanding the genetic implications of diseases such as ovarian cancer and various syndromic manifestations linked to specific genetic mutations.

Articles (17)

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2026

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2021

Collaborators (23)

Vincenzo Ezio SANTOBUONO

University of Bari Aldo Moro

ITALY

Nicoletta Resta

Research Interests

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Articles (17)

Revisiting the Genetics of Hypertrophic Cardiomyopathy: From Sarcomeres to Polygenic Modulation and Clinical Translation

Familial White–Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in <i>LAMA3</i> Revealed by 18q11.2 Microdeletion

Sailing Across Contraception, Pregnancy, and Breastfeeding: The Complex Journey of Women with Cardiomyopathies

Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications

De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience

Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis

Work-Up and Treatment Strategies for Individuals with <i>PIK3CA</i>-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

Lateralized and Segmental Overgrowth in Children

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations

Collaborators (23)

Vincenzo Ezio SANTOBUONO

Ettore CICINELLI

Michael CAHILL

Carmen Abate

Robert Mach

FABIO CARDINALE

Marialessandra Contino

Maria Rivieccio

Byung Chul Lee

Bekim Sadikovic

Vittoria Infantino

Pietro D'Addabbo

ANTONIO TRABACCA

Alessandro Mussa

Nunzio Denora

Nicola Laforgia

Alessandro Stella

Alessandra Rosati

Jean-Francois Desaphy

Andrea Igoren Guaricci

Mauro Niso

René Marsano

Chiara Leoni

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