Marco Ferilli

Rome, Italy

Last Updated: 09/26/2026

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Found 21 publications

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Journal: Clinical genetics

Published: November 14, 2025

Advancing epigenetic signatures as functional biomarkers in rare diseases.

Advancing epigenetic signatures as functional biomarkers in rare diseases.

Journal: Epigenomics

Published: November 05, 2025

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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

Published: September 15, 2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Journal: Genes

Published: August 22, 2025

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

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

Published: July 04, 2025

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Journal: Genes

Published: June 03, 2025

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.

Journal: Clinical genetics

Published: May 15, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Journal: Genes

Published: December 30, 2024

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Journal: European journal of human genetics : EJHG

Published: December 05, 2024

Response to: Are there two disjunct episignatures for KMT2B-related disease?

Response to: Are there two disjunct episignatures for KMT2B-related disease?

Journal: Brain communications

Published: October 21, 2024

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Journal: HGG advances

Published: June 06, 2024

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Last Updated: 09/26/2026