Grazia S. Mancini

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 122 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

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: November 22, 2024

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 07, 2024

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development.

The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development.

Journal: Development (Cambridge, England)

Published: August 23, 2024

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Journal: The Journal of clinical investigation

Published: July 08, 2024

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Journal: Clinical genetics

Published: May 03, 2024

Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Journal: Brain : a journal of neurology

Published: April 26, 2024

Showing 1-12 of 122

Last Updated: 09/26/2026