1. "CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557‐2566, 2014. (5th May 2015) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Issue 10 (14th August 2014) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Issue 10 (14th August 2014) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype123. Issue 2 (15th January 2013) Authors: Cordelli, Duccio Maria; Garavelli, Livia; Savasta, Salvatore; Guerra, Azzurra; Pellicciari, Alessandro; Giordano, Lucio; Bonetti, Silvia; Cecconi, Ilaria; Wischmeijer, Anita; Seri, Marco; Rosato, Simonetta; Gelmini, Chiara; Della Giustina, Elvio; Ferrari, Anna Rita; Zanotta, Nicoletta; Epifanio, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epilepsy in Rett syndrome—Lessons from the Rett networked database. (19th March 2015) Authors: Nissenkorn, Andreea; Levy‐Drummer, Rachel S.; Bondi, Ori; Renieri, Alessandra; Villard, Laurent; Mari, Francesca; Mencarelli, Maria A.; Lo Rizzo, Caterina; Meloni, Ilaria; Pineda, Mercedes; Armstrong, Judith; Clarke, Angus; Bahi‐Buisson, Nadia; Mejaski, Bosnjak Vlatka; Djuric, Milena; Craiu, Dana... Journal: Epilepsia Issue: Volume 56:issue 4(2015:Apr.) Page Start: 569 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evidence of digenic inheritance in Alport syndrome. Issue 3 (9th January 2015) Authors: Mencarelli, Maria Antonietta; Heidet, Laurence; Storey, Helen; van Geel, Michel; Knebelmann, Bertrand; Fallerini, Chiara; Miglietti, Nunzia; Antonucci, Maria Fatima; Cetta, Francesco; Sayer, John A; van den Wijngaard, Arthur; Yau, Shu; Mari, Francesca; Bruttini, Mirella; Ariani, Francesca; Dahan,... Journal: Journal of medical genetics Issue: Volume 52:Issue 3(2015) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Evidence of predisposing epimutation in retinoblastoma. Issue 2 (26th November 2018) Authors: Gelli, Elisa; Pinto, Anna Maria; Somma, Serena; Imperatore, Valentina; Cannone, Marta G.; Hadjistilianou, Theodora; De Francesco, Sonia; Galimberti, Daniela; Currò, Aurora; Bruttini, Mirella; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca Journal: Human mutation Issue: Volume 40:Issue 2(2019) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Guidelines for Genetic Testing and Management of Alport Syndrome. Issue 1 (January 2022) Authors: Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, ... Journal: Clinical journal of the American Society of Nephrology Issue: Volume 17:Issue 1(2022) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Huntington's disease gene expansion associates with early onset nonprogressive chorea. Issue 5 (27th March 2013) Authors: Dosa, Laura; Malandrini, Alessandro; Di, Ilaria; Hladnik, Uros; Meloni, Ilaria; Mari, Francesca; Federico, Antonio Journal: Movement disorders Issue: Volume 28:Issue 5(2013) Page Start: 684 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗