Francesca Sparascio-Piceci
San Giovanni Rotondo, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 14 publications
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 03, 2024
A novel ANO3 variant in two siblings with different phenotypes.
Journal: Parkinsonism & related disorders
Published: April 02, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Journal: European journal of human genetics : EJHG
Published: August 19, 2022
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Journal: Nature communications
Published: April 09, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Journal: American journal of human genetics
Published: November 19, 2021
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
Journal: Genes
Published: May 24, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Journal: International journal of molecular sciences
Published: December 27, 2020
The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting.
Journal: International journal of environmental research and public health
Published: July 04, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Journal: American journal of human genetics
Published: May 13, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Journal: American journal of human genetics
Published: April 28, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Journal: Human mutation
Published: April 17, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Journal: Molecular genetics & genomic medicine
Published: February 10, 2020
Last Updated: 09/26/2026