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. A Family with γ-Thalassemia and High Hb A2 Levels. (3rd May 2016) Authors: Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Taddei Masieri, Marina; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna Journal: Hemoglobin Issue: Volume 40:Number 3(2016) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Issue 6 (20th March 2020) Authors: Aspromonte, Maria C.; Bellini, Mariagrazia; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Bigoni, Stefania; Boni, Stefania; Carlet, Ombretta; Negrin, Susanna; Mammi, Isabella; Milani, Donatella; Peron, Angela; Sartori, Stefano; Toldo, Irene; Soli, Fioren... Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Issue 9 (2nd August 2019) Authors: Aspromonte, Maria C.; Bellini, Mariagrazia; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Bigoni, Stefania; Boni, Stefania; Carlet, Ombretta; Negrin, Susanna; Mammi, Isabella; Milani, Donatella; Peron, Angela; Sartori, Stefano; Toldo, Irene; Soli, Fioren... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H.... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG". Issue 1 (25th September 2021) Authors: Lugli, Licia; Pollazzon, Marzia; Bigoni, Stefania; Caraffi, Stefano Giuseppe; Ferlini, Alessandra; Ferri, Lorenzo; Morrone, Amelia; Calabrese, Olga; Iughetti, Lorenzo; Garavelli, Livia; Berardi, Alberto Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Issue 2 (9th December 2016) Authors: Parrini, Elena; Marini, Carla; Mei, Davide; Galuppi, Anna; Cellini, Elena; Pucatti, Daniela; Chiti, Laura; Rutigliano, Domenico; Bianchini, Claudia; Virdò, Simona; De Vita, Dalila; Bigoni, Stefania; Barba, Carmen; Mari, Francesco; Montomoli, Martino; Pisano, Tiziana; Rosati, Anna; Guerrini, Renzo Journal: Human mutation Issue: Volume 38:Issue 2(2017) Page Start: 216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗