Eva Pompilii
GynePro Medical(IT)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Assisted Reproductive Technology and Twin Pregnancy, Fetal and Pediatric Neurological Disorders, Congenital Anomalies and Fetal Surgery
Most-Cited Works
- → Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis(2015)211 cited
- → Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature(2009)111 cited
- → The type of feto‐placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure(2015)110 cited
- → Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis(2014)38 cited
- → Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome(2014)23 cited
- → Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling(2015)16 cited
- → Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity(2008)16 cited
- → Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations(2013)11 cited
- → Isolated Upward Rotation of the Fetal Cerebellar Vermis (Blake’s Pouch Cyst) Is a Normal Variant: An Analysis of 111 Cases(2021)10 cited
- → Prenatal genetic counseling referrals for advanced maternal age: still room for improvement(2013)7 cited