Gioia Mastromoro | Ricerc@Sapienza

Publications

Title	Published on	Year
Pathophysiology of coarctation of the aorta in dichorionic twins with growth discordance	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2022
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes{\textemdash}A report of 74 cases with systematic review of the literature	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2022
Role of ductus venosus agenesis in right ventricle development	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2022
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene	EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY	2022
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review	DIAGNOSTICS	2021
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings	EUROPEAN JOURNAL OF MEDICAL GENETICS	2021
External hydrocephalus as a prenatal feature of Noonan Syndrome	ANNALS OF HUMAN GENETICS	2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort	GENETICS IN MEDICINE	2021
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment	EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY	2021
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2020
Neonatal Marfan Syndrome by Inherited Mutation	INDIAN JOURNAL OF PEDIATRICS	2020
Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings	EUROPEAN JOURNAL OF MEDICAL GENETICS	2020
Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters	EUROPEAN JOURNAL OF HUMAN GENETICS	2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications	EUROPEAN JOURNAL OF HUMAN GENETICS	2020
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.	PLOS ONE	2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy	HUMAN MUTATION	2019
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease	NEURODEGENERATIVE DISEASES	2019
Impact of genetic studies on comprehension and treatment of congenital heart disease	PROGRESS IN PEDIATRIC CARDIOLOGY	2018

Progetti di Ricerca

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