Manuela Morleo

Naples, Italy

Last Updated: 09/26/2026

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Found 45 publications

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Journal: American journal of human genetics

Published: September 26, 2025

Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.

Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: August 25, 2025

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Journal: American journal of medical genetics. Part A

Published: July 14, 2025

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.

Journal: Clinical genetics

Published: May 30, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

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

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

Journal: European journal of human genetics : EJHG

Published: April 08, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Journal: Neurology. Genetics

Published: March 20, 2025

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

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

Journal: Lab animal

Published: June 24, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: January 24, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: January 09, 2024

Showing 1-12 of 45

Last Updated: 09/26/2026