1. A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome. (February 2021) Authors: Palmieri, Maria; Pinto, Anna Maria; di Blasio, Laura; Currò, Aurora; Monica, Valentina; Sarno, Laura Di; Doddato, Gabriella; Baldassarri, Margherita; Frullanti, Elisa; Giliberti, Annarita; Mussolin, Benedetta; Fallerini, Chiara; Molinaro, Francesco; Vaghi, Massimo; Renieri, Alessandra; Primo, Luca Journal: Vascular Issue: Volume 29:Number 1(2021) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation. Issue 11 (November 2020) Authors: Pinto, Anna Maria; Daga, Sergio; Fallerini, Chiara; Bruttini, Mirella; Baldassarri, Margherita; Giliberti, Annarita; Frullanti, Elisa; Guarnieri, Andrea; Garosi, Guido; Renieri, Alessandra Journal: Transplantation Issue: Volume 104:Issue 11(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Germline polymorphisms and survival of lung adenocarcinoma patients: A genome‐wide study in two European patient series. Issue 5 (19th September 2014) Authors: Galvan, Antonella; Colombo, Francesca; Frullanti, Elisa; Dassano, Alice; Noci, Sara; Wang, Yufei; Eisen, Timothy; Matakidou, Athena; Tomasello, Luisa; Vezzalini, Marzia; Sorio, Claudio; Dugo, Matteo; Ambrogi, Federico; Iacobucci, Ilaria; Martinelli, Giovanni; Incarbone, Matteo; Alloisio, Marco; N... Journal: International journal of cancer Issue: Volume 136:Issue 5(2015:Mar. 01) Page Start: E262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome. Issue 7 (3rd April 2014) Authors: Disciglio, Vittoria; Rizzo, Caterina Lo; Mencarelli, Maria Antonietta; Mucciolo, Mafalda; Marozza, Annabella; Di Marco, Chiara; Massarelli, Antonio; Canocchi, Valentina; Baldassarri, Margherita; Ndoni, Enea; Frullanti, Elisa; Amabile, Sonia; Anderlid, Britt Marie; Metcalfe, Kay; Le Caignec, Cédri... Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Low‐level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia. (20th February 2018) Authors: Pinto, Anna Maria; Papa, Filomena T.; Frullanti, Elisa; Meloni, Ilaria; Tita, Rossella; Caselli, Rossella; Fallerini, Chiara; Lopergolo, Diego; Cetta, Francesco; Mencarelli, Maria Antonietta; Bocchia, Monica; Gozzetti, Alessandro; Renieri, Alessandra Journal: British journal of haematology Issue: Volume 184:Number 4(2019) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy. Issue 1 (January 2018) Authors: Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; Fallerini, Chiara; Della Chiara, Veronica; Zalba-Jadraque, Laura; Baldassarri, Margherita; Gamucci, Alessandra; Mari, Francesca; Veneselli, Edvige; Renieri, Alessandra Journal: Clinical dysmorphology Issue: Volume 27:Issue 1(2018:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. Issue 7 (3rd July 2022) Authors: Croci, Susanna; Venneri, Mary Anna; Mantovani, Stefania; Fallerini, Chiara; Benetti, Elisa; Picchiotti, Nicola; Campolo, Federica; Imperatore, Francesco; Palmieri, Maria; Daga, Sergio; Gabbi, Chiara; Montagnani, Francesca; Beligni, Giada; Farias, Ticiana D.J.; Carriero, Miriam Lucia; Di Sarno, La... Journal: Autophagy Issue: Volume 18:Issue 7(2022) Page Start: 1662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients. (28th January 2020) Authors: Palmieri, Maria; Baldassarri, Margherita; Fava, Francesca; Fabbiani, Alessandra; Gelli, Elisa; Tita, Rossella; Torre, Pamela; Petrioli, Roberto; Hadijstilianou, Theodora; Galimberti, Daniela; Cinotti, Elisa; Bengala, Carmelo; Mandalà, Marco; Piu, Pietro; Miano, Salvatora Tindara; Martellucci, Ign... Journal: Cancer medicine Issue: Volume 9:Number 6(2020) Page Start: 2052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome. Issue 2 (22nd November 2017) Authors: Daga, Sergio; Baldassarri, Margherita; Lo Rizzo, Caterina; Fallerini, Chiara; Imperatore, Valentina; Longo, Ilaria; Frullanti, Elisa; Landucci, Elisa; Massella, Laura; Pecoraro, Carmine; Garosi, Guido; Ariani, Francesca; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Pinto, A... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗