1. An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. Issue 6 (14th October 2020) Authors: Errichiello, Edoardo; Arossa, Alessia; Iasci, Angela; Villa, Roberta; Ischia, Benedetta; Pavesi, Maria Angela; Rizzuti, Tommaso; Bedeschi, Maria Francesca; Zuffardi, Orsetta Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cell‐free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review. (12th March 2021) Authors: Familiari, Alessandra; Boito, Simona; Rembouskos, Georgios; Ischia, Benedetta; Accurti, Veronica; Fabietti, Isabella; Volpe, Paolo; Persico, Nicola Journal: Prenatal diagnosis Issue: Volume 41:Number 10(2021) Page Start: 1324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cell‐free DNA testing in the maternal blood in high‐risk pregnancies after first‐trimester combined screening. (9th February 2016) Authors: Persico, Nicola; Boito, Simona; Ischia, Benedetta; Cordisco, Adalgisa; De Robertis, Valentina; Fabietti, Isabella; Periti, Enrico; Volpe, Paolo; Fedele, Luigi; Rembouskos, Georgios Journal: Prenatal diagnosis Issue: Volume 36:Number 3(2016) Page Start: 232 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies. (9th August 2020) Authors: Persico, Nicola; Boito, Simona; Volpe, Paolo; Ischia, Benedetta; Gentile, Mattia; Ronzoni, Luisa; De Robertis, Valentina; Fabietti, Isabella; Olivieri, Claudiana; Periti, Enrico; Ficarella, Romina; Silipigni, Rosamaria; Rembouskos, Georgios Journal: Prenatal diagnosis Issue: Volume 40:Number 11(2020) Page Start: 1474 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios. (24th June 2016) Authors: Boito, Simona; Crovetto, Francesca; Ischia, Benedetta; Crippa, Beatrice Letizia; Fabietti, Isabella; Bedeschi, Maria Francesca; Lalatta, Faustina; Colombo, Lorenzo; Mosca, Fabio; Fedele, Luigi; Persico, Nicola Journal: Prenatal diagnosis Issue: Volume 36:Number 8(2016) Page Start: 726 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗