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Marzia Ognibene

Biologist

Istituto Giannina Gaslini

Italy

Research Interests

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Professors in Italy Professors in Cell Biology Cell Biology professors in Italy

Articles (20)

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2026

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2026

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2023

Collaborators (11)

Maurizio Miano

IRCCS Istituto Giannina Gaslini

ITALY

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Mahshid Azamian

Baylor College of Medicine

UNITED STATES

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Andrea Accogli

Medical Geneticist

McGill University

CANADA

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Antonio Verrico

Istituto Giannina Gaslini

ITALY

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Monica Muraca

IRCCS Istituto Giannina Gaslini

ITALY

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Francesco Caroli

Op. Prof. Tecnico Laboratorio Biomedico

Istituto Giannina Gaslini

ITALY

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Christina Ringmann Fagerberg

Clinical Associate Professor

University of Southern Denmark

DENMARK

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Eline van der Sluijs

Leiden University Medical Center

NETHERLANDS

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Elisabeth Bosch

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Marcello Scala

Researcher

University of Genoa

ITALY

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Bernt Popp

Charité - Universitätsmedizin Berlin

GERMANY

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Marzia Ognibene

Research Interests

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Articles (20)

Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity

Frequency and Prognostic Significance of Genetic Abnormalities in a Subgroup of Patients With Intermediate-Risk Neuroblastoma: A SIOPEN Study

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis

Targeted Re‐Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy

Ezrin defines TSC complex activation at endosomal compartments through EGFR-AKT signaling

Functional Characterization of a Novel Intronic Variant in <i>PIEZO2</i> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report

Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report

Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion

Overexpression of <i>H2AFX</i> gene in neuroblastoma is associated with worse prognosis

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

A Simple, Test-Based Method to Control the Overestimation Bias in the Analysis of Potential Prognostic Tumour Markers

Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

Early Onset of Subsequent Breast Cancer in a Young Woman Previously treated for Relapsed Childhood Acute Lymphoblastic Leukemia

Collaborators (11)

Maurizio Miano

Mahshid Azamian

Andrea Accogli

Antonio Verrico

Monica Muraca

Francesco Caroli

Christina Ringmann Fagerberg

Eline van der Sluijs

Elisabeth Bosch

Marcello Scala

Bernt Popp

Make your next move.

Marzia Ognibene

Research Interests

Explore related searches

Articles (20)

Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant

Missense but mis-spliced: germline TP53 variant c.671A &gt; C (p.E224A) and the path from uncertainty to pathogenicity

Frequency and Prognostic Significance of Genetic Abnormalities in a Subgroup of Patients With Intermediate-Risk Neuroblastoma: A SIOPEN Study

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis

Targeted Re‐Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy

Ezrin defines TSC complex activation at endosomal compartments through EGFR-AKT signaling

Functional Characterization of a Novel Intronic Variant in <i>PIEZO2</i> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report

Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report

Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion

Overexpression of <i>H2AFX</i> gene in neuroblastoma is associated with worse prognosis

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

A Simple, Test-Based Method to Control the Overestimation Bias in the Analysis of Potential Prognostic Tumour Markers

Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

Early Onset of Subsequent Breast Cancer in a Young Woman Previously treated for Relapsed Childhood Acute Lymphoblastic Leukemia

Collaborators (11)

Maurizio Miano

Mahshid Azamian

Andrea Accogli

Antonio Verrico

Monica Muraca

Francesco Caroli

Christina Ringmann Fagerberg

Eline van der Sluijs

Elisabeth Bosch

Marcello Scala

Bernt Popp

Make your next move.

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity