Daniela Formicola

Rome, Italy

Last Updated: 09/26/2026

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Found 22 publications

Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.

Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: September 05, 2025

Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.

Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.

Journal: Journal of molecular and cellular cardiology

Published: June 19, 2024

Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.

Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.

Journal: Frontiers in neuroscience

Published: March 05, 2024

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Journal: HemaSphere

Published: January 05, 2024

Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.

Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.

Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Published: December 31, 2023

A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

Journal: Frontiers in neuroscience

Published: September 28, 2023

Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.

Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.

Journal: Neuropediatrics

Published: August 07, 2023

PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.

PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.

Journal: American journal of hematology

Published: October 23, 2022

CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity.

CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity.

Journal: HGG advances

Published: August 30, 2022

Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.

Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.

Journal: Human molecular genetics

Published: July 28, 2021

Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma.

Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma.

Journal: Journal of cellular and molecular medicine

Published: September 03, 2019

Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.

Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.

Journal: Carcinogenesis

Published: June 09, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026