Gioia Mastromoro | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules	GENETICS IN MEDICINE	2024
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome	EUROPEAN JOURNAL OF HUMAN GENETICS	2023
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2	JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA	2023
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	EUROPEAN JOURNAL OF MEDICAL GENETICS	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility	BIOMEDICINES	2023
Correspondence to “Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease”	PEDIATRIC CARDIOLOGY	2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region	GENES	2023
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2023
Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect	CIRCULATION. CARDIOVASCULAR IMAGING	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants	FRONTIERS IN NEUROLOGY	2022
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
Fetal echocardiographic features of absent pulmonary valve syndrome	AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY	2022
Pathophysiology of coarctation of aorta in dichorionic twins with growth discordance	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2022
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer	DIAGNOSTICS	2022
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series	DIAGNOSTICS	2022

Progetti di Ricerca

Metanalysis of exome sequencing application in fetal structural anomalies: current practice and future perspectives