Luciana Musante

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 42 publications

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Journal: medRxiv : the preprint server for health sciences

Published: January 02, 2026

Electro-clinical changes during CASK-related encephalopathy evolution.

Electro-clinical changes during CASK-related encephalopathy evolution.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: May 01, 2025

A novel spliceosomopathy caused by de novo SF3B3 variants.

A novel spliceosomopathy caused by de novo SF3B3 variants.

Journal: Genome medicine

Published: April 26, 2025

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Journal: The Journal of clinical investigation

Published: January 28, 2025

The natural history of CDKL5 deficiency disorder into adulthood.

The natural history of CDKL5 deficiency disorder into adulthood.

Journal: medRxiv : the preprint server for health sciences

Published: January 27, 2025

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Journal: Biomolecules

Published: August 28, 2024

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Journal: The Journal of clinical investigation

Published: August 20, 2024

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Journal: Genes

Published: December 20, 2022

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Journal: American journal of human genetics

Published: December 14, 2022

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

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

Published: November 23, 2022

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Journal: Genes

Published: October 11, 2022

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Journal: Genes

Published: February 16, 2022

Showing 1-12 of 42

Last Updated: 09/26/2026