Natascia Malerba

San Giovanni Rotondo, 71013, Italy

Last Updated: 09/26/2026

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Found 16 publications

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.

Journal: Cells

Published: May 18, 2020

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Journal: Journal of medical genetics

Published: November 19, 2019

The Emerging Role of Gβ Subunits in Human Genetic Diseases.

The Emerging Role of Gβ Subunits in Human Genetic Diseases.

Journal: Cells

Published: October 23, 2019

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.

Journal: Stem cell research

Published: July 30, 2019

The epileptology of GNB5 encephalopathy.

The epileptology of GNB5 encephalopathy.

Journal: Epilepsia

Published: April 29, 2019

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.

Journal: Science advances

Published: January 24, 2019

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

Journal: Frontiers in genetics

Published: August 08, 2018

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Journal: Human molecular genetics

Published: April 24, 2018

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Journal: International journal of molecular sciences

Published: November 24, 2017

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.

Journal: Clinical genetics

Published: November 09, 2017

TRIM50 regulates Beclin 1 proautophagic activity.

TRIM50 regulates Beclin 1 proautophagic activity.

Journal: Biochimica et biophysica acta. Molecular cell research

Published: September 18, 2017

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Journal: American journal of human genetics

Published: September 03, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026