Niccolo' Di Giosaffatte | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility	HUMAN GENETICS	2023
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB	CLINICAL GENETICS	2022
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman	PRENATAL DIAGNOSIS	2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report	GENES	2022
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?	GENES	2022
Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports	CLINICAL AND EXPERIMENTAL RHEUMATOLOGY	2022
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation	JOURNAL OF MOLECULAR NEUROSCIENCE	2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort	GENETICS IN MEDICINE	2021
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy	HUMAN MUTATION	2019
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease	GENES	2019