Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

Italy

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About

Manuela Morleo is an Assistant Professor at the University of Campania "Luigi Vanvitelli" in Italy. Her research focuses on neurodevelopmental disorders, rare diseases, and genotype-phenotype correlations, as reflected in her recent articles. She has contributed significantly to understanding the clinical spectrum of various genetic disorders and their mechanisms, publishing on topics such as pathogenic variants and structural variant calling.

Articles (19)

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2025

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2022

Collaborators (35)

Michela Ori

Associate Professor

University of Pisa

ITALY

Manuela Morleo

Research Interests

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Articles (19)

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Crosstalk between cilia and autophagy

Proteome balance in ciliopathies: the OFD1 protein example.

Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.

Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma.

ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Collaborators (35)

Michela Ori

Christiane Zweier

ANNA BARBATO

María Palomares-Bralo

Felix Boschann

Carmen Ayuso

Brian McCabe

Phillip Grote

Kwame Anyane-Yeboa

Simona Brillante

Richard A Baines

Kari Mattison

Sally Ann Lynch

Marc Sturm

Brunella FRANCO

Ida Vogel

William Dobyns

Véronique Pingault

Ina Knerr

Helena Vieira

Vincenzo Gennarino

Jim Warwicker

Duarte Barral

roberta battini

Alessia Indrieri

Siddharth Banka

Saoud Tahsin Swafiri Swafiri

Cristina Dias

Thanh Binh Nguyen

Stephanie Wechsler

Daniela Pasquali

Ángel Aledo‐Serrano

Mariko Nakano-Okuno

Cheryl Shoubridge

Adrian Woolf

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