| When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort A Scott, N Di Giosaffatte, V Pinna, P Daniele, S Corno, V D’Ambrosio, ... Genetics in Medicine 23 (6), 1116-1124, 2021 | 31 | 2021 |
| Prenatal exome sequencing: background, current practice and future perspectives—a systematic review D Guadagnolo, G Mastromoro, F Di Palma, A Pizzuti, E Marchionni Diagnostics 11 (2), 224, 2021 | 30 | 2021 |
| Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy M Motta, A Giancotti, G Mastromoro, B Chandramouli, V Pinna, ... Human mutation 40 (8), 1046-1056, 2019 | 29 | 2019 |
| Molecular approaches in fetal malformations, dynamic anomalies and soft markers: diagnostic rates and challenges—systematic review of the literature and meta-analysis G Mastromoro, D Guadagnolo, N Khaleghi Hashemian, E Marchionni, ... Diagnostics 12 (3), 575, 2022 | 27 | 2022 |
| Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications C Lissewski, V Chune, F Pantaleoni, A De Luca, Y Capri, J Brinkmann, ... European Journal of Human Genetics 29 (1), 51-60, 2021 | 24 | 2021 |
| A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1 MG Giuffrida, G Mastromoro, V Guida, M Truglio, M Fabbretti, B Torres, ... American Journal of Medical Genetics Part A 182 (3), 508-512, 2020 | 17 | 2020 |
| Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice G Mastromoro, G Calcagni, P Versacci, C Putotto, M Chinali, C Lambiase, ... PLoS One 14 (4), e0211170, 2019 | 17 | 2019 |
| 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 R Squitti, C Catalli, L Gigante, M Marianetti, M Rosari, S Mariani, ... International Journal of Molecular Sciences 24 (7), 6377, 2023 | 13 | 2023 |
| Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings G Mastromoro, D Guadagnolo, A Giancotti, MG Di Gregorio, E Marchionni, ... European Journal of Medical Genetics 64 (1), 104106, 2021 | 12 | 2021 |
| Small 7p22. 3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings G Mastromoro, A Capalbo, CA Guido, B Torres, M Fabbretti, A Traversa, ... European journal of medical genetics 63 (4), 103772, 2020 | 11 | 2020 |
| A pain in the neck: Lessons learnt from genetic testing in fetuses detected with nuchal fluid collections, increased nuchal translucency versus cystic hygroma—Systematic … G Mastromoro, D Guadagnolo, N Khaleghi Hashemian, L Bernardini, ... Diagnostics 13 (1), 48, 2022 | 10 | 2022 |
| Crossed pulmonary arteries: an underestimated cardiovascular variant with a strong association with genetic syndromes—a report of 74 cases with systematic review of the literature G Mastromoro, G Calcagni, W Vignaroli, S Anaclerio, F Pugnaloni, ... American Journal of Medical Genetics Part A 188 (8), 2351-2359, 2022 | 9 | 2022 |
| Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome F Piceci-Sparascio, L Micale, B Torres, V Guida, F Consoli, I Torrente, ... European Journal of Human Genetics 31 (4), 479-484, 2023 | 8 | 2023 |
| External hydrocephalus as a prenatal feature of noonan syndrome G Mastromoro, A De Luca, E Marchionni, A Spagnuolo, F Ventriglia, ... Annals of Human Genetics 85 (6), 249-252, 2021 | 7 | 2021 |
| Chromosomal microarray analysis in fetuses detected with isolated cardiovascular malformation: a multicenter study, systematic review of the literature and meta-analysis G Mastromoro, N Khaleghi Hashemian, D Guadagnolo, MG Giuffrida, ... Diagnostics 12 (6), 1328, 2022 | 5 | 2022 |
| Pathophysiology of coarctation of the aorta in dichorionic twins with growth discordance. G Piacentini, G Mastromoro, A Bottoni, V Romano, R Riccardi, L Orfeo Ultrasound in Obstetrics & Gynecology 59 (1), 2022 | 4 | 2022 |
| Unusual segregation of APP mutations in monogenic Alzheimer disease G Mastromoro, S Gambardella, E Marchionni, R Campopiano, A Traversa, ... Neurodegenerative Diseases 19 (2), 96-100, 2019 | 4 | 2019 |
| Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility D Guadagnolo, G Mastromoro, E Marchionni, A Germani, F Libi, ... Biomedicines 11 (7), 2062, 2023 | 3 | 2023 |
| Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy E Marchionni, E Agolini, G Mastromoro, D Guadagnolo, G Coppola, ... American Journal of Medical Genetics Part A 185 (5), 1509-1514, 2021 | 3 | 2021 |
| Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and … E Marchionni, D Guadagnolo, G Mastromoro, A Pizzuti European Journal of Human Genetics 32 (7), 759-769, 2024 | 2 | 2024 |
