Marco Fabiani

Rome, 00198, Italy

Last Updated: 09/26/2026

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Found 48 publications

Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.

Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.

Journal: Genes

Published: November 18, 2025

Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions.

Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions.

Journal: Cerebellum (London, England)

Published: September 05, 2025

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.

Journal: Brain and behavior

Published: August 05, 2025

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Journal: International medical case reports journal

Published: July 18, 2025

Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.

Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.

Journal: Human mutation

Published: July 08, 2025

Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis.

Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis.

Journal: International journal of molecular sciences

Published: April 17, 2025

Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.

Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.

Journal: Neurogenetics

Published: March 19, 2025

Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Journal: Journal of assisted reproduction and genetics

Published: January 18, 2025

Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.

Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: January 07, 2025

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

Journal: Fetal and pediatric pathology

Published: December 11, 2024

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Journal: Journal of assisted reproduction and genetics

Published: October 16, 2024

Showing 1-12 of 48

Last Updated: 09/26/2026