Marco Fichera

Catania, 95123, Italy

Last Updated: 09/26/2026

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Found 50 publications

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Journal: Frontiers in psychiatry

Published: November 25, 2025

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Journal: Genes

Published: October 21, 2025

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Journal: Gene

Published: April 08, 2025

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

Journal: Molecular and cellular pediatrics

Published: November 12, 2024

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.

Journal: International journal of molecular sciences

Published: October 30, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

Journal: Therapeutic advances in rare disease

Published: September 07, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).

Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).

Journal: Biomedical reports

Published: May 09, 2024

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Journal: American journal of human genetics

Published: May 17, 2023

Showing 1-12 of 50

Last Updated: 09/26/2026