F. Piceci-Sparascio

发表

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

M. Burmeister, H. Kayserili, P. Lapunzina, 2017, Human molecular genetics.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

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

M. Digilio, P. Lapunzina, M. Tartaglia, 2020, Human mutation.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

S. Bianca, R. Tenconi, T. Mazza, 2021, International journal of molecular sciences.

Restrictive dermopathy: Novel ZMPSTE24 mutation and clues for prenatal diagnosis

T. Mazza, V. Caputo, A. Pizzuti, 2019 .

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

P. Lapunzina, J. Nevado, F. Garcia-Gonzalo, 2022, American journal of human genetics.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

A novel ANO3 variant in two siblings with different phenotypes.

M. Esposito, F. Consoli, A. De Luca, 2023, Parkinsonism & related disorders.