| Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis A Giancotti, V D’Ambrosio, E Marchionni, A Squarcella, C Aliberti, ... The Journal of Maternal-Fetal & Neonatal Medicine 30 (18), 2225-2231, 2017 | 30 | 2017 |
| 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 | 26 | 2022 |
| 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 | 26 | 2021 |
| Role of fetal MRI in the evaluation of isolated and non‐isolated corpus callosum dysgenesis: results of a cross‐sectional study L Manganaro, S Bernardo, C De Vito, A Antonelli, E Marchionni, V Vinci, ... Prenatal Diagnosis 37 (3), 244-252, 2017 | 23 | 2017 |
| Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI S Bernardo, E Marchionni, S Prudente, P De Liso, A Spalice, A Giancotti, ... European Journal of Paediatric Neurology 21 (3), 587-590, 2017 | 18 | 2017 |
| DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort F Di Lorenzo, E Marchionni, V Ferradini, A Latini, L Pezzoli, A Martino, ... International Journal of Molecular Sciences 24 (3), 2490, 2023 | 17 | 2023 |
| KIF1C variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins E Marchionni, A Méneret, B Keren, J Melki, C Denier, A Durr, E Apartis, ... Tremor and Other Hyperkinetic Movements 9, 2019 | 14 | 2019 |
| GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations ML Genovesi, D Guadagnolo, E Marchionni, A Giovannetti, A Traversa, ... Bone 144, 115803, 2021 | 10 | 2021 |
| 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 | 10 | 2021 |
| TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women E Marchionni, MG Porpora, F Megiorni, I Piacenti, A Giovannetti, ... Diagnostics 10 (5), 255, 2020 | 7 | 2020 |
| Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation A Traversa, S Bernardo, A Paiardini, A Giovannetti, E Marchionni, ... Molecular genetics & genomic medicine 8 (1), e1054, 2020 | 6 | 2020 |
| 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 | 5 | 2021 |
| 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 |
| Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co … A Traversa, E Marchionni, A Giovannetti, ML Genovesi, N Panzironi, ... Molecular Genetics & Genomic Medicine 8 (8), e1336, 2020 | 3 | 2020 |
| Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells G Mastromoro, D Guadagnolo, E Marchionni, B Torres, M Goldoni, ... American Journal of Medical Genetics Part A 191 (4), 1101-1106, 2023 | 2 | 2023 |
| X-linked dominant RPGR gene mutation in a familial Coats angiomatosis M Nebbioso, F Franzone, A Lambiase, M La Cava, F Mallone, A Pizzuti, ... BMC ophthalmology 21, 1-8, 2021 | 2 | 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, 1-11, 2024 | 1 | 2024 |
| Incidental SOS1 variant identified by non-invasive prenatal screening. Prenatal diagnosis and family clinical reassessment G Mastromoro, D Guadagnolo, E Marchionni, F Di Palma, L Gigante, ... European journal of obstetrics, gynecology, and reproductive biology 256 …, 2021 | 1 | 2021 |
