1. 5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. Issue 1 (December 2017) Authors: Marconi, Caterina; Canobbio, Ilaria; Bozzi, Valeria; Pippucci, Tommaso; Simonetti, Giorgia; Melazzini, Federica; Angori, Silvia; Martinelli, Giovanni; Saglio, Giuseppe; Torti, Mauro; Pastan, Ira; Seri, Marco; Pecci, Alessandro Journal: Journal of hematology & oncology Issue: Volume 10:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. (2nd November 2017) Authors: Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare Journal: Ophthalmic genetics Issue: Volume 38:Number 6(2017) Page Start: 590 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. (3rd May 2017) Authors: Noris, Patrizia; Marconi, Caterina; De Rocco, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna Journal: British journal of haematology Issue: Volume 181:Number 5(2018) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. Issue 10 (7th August 2019) Authors: Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri,... Journal: FASEB journal Issue: Volume 33:Issue 10(2019) Page Start: 11284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. Issue 7 (11th May 2013) Authors: Licchetta, Laura; Pippucci, Tommaso; Bisulli, Francesca; Cantalupo, Gaetano; Magini, Pamela; Alvisi, Lara; Baldassari, Sara; Martinelli, Paolo; Naldi, Ilaria; Vanni, Nicola; Liguori, Rocco; Seri, Marco; Tinuper, Paolo Journal: Epilepsia Issue: Volume 54:Issue 7(2013:Jul.) Page Start: 1298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. (23rd October 2018) Authors: Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia Journal: British journal of haematology Issue: Volume 183:Number 2(2018) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Issue 5 (21st January 2021) Authors: Cameli, Cinzia; Viggiano, Marta; Rochat, Magali J.; Maresca, Alessandra; Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Magini, Pamela; Duardo, Renée C.; Ceroni, Fabiola; Scaduto, Maria C.; Posar, Annio; Seri, Marco; Carelli, Valerio; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena Journal: Journal of cellular and molecular medicine Issue: Volume 25:Issue 5(2021) Page Start: 2459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31. Issue 6 (1st March 2014) Authors: Bisulli, Francesca; Naldi, Ilaria; Baldassari, Sara; Magini, Pamela; Licchetta, Laura; Castegnaro, Giovanni; Fabbri, Margherita; Stipa, Carlotta; Ferrari, Simona; Seri, Marco; Gonçalves Silva, Gilson Edmar; Tinuper, Paolo; Pippucci, Tommaso Journal: Epilepsia Issue: Volume 55:Issue 6(2014:Jun.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Issue 11 (17th August 2018) Authors: Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovann... Journal: Journal of medical genetics Issue: Volume 55:Issue 11(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype. Issue 4 (14th January 2021) Authors: Tedesco, Maria Giovanna; Lonardo, Fortunato; Ceccarini, Caterina; Cesarano, Carla; Digilio, Maria Cristina; Magliozzi, Monia; Rogaia, Daniela; Mencarelli, Amedea; Leoni, Chiara; Piscopo, Carmelo; Imperatore, Valentina; Falco, Maria Teresa; Fontana, Paolo; Nardone, Anna Maria; Novelli, Antonio; Tr... Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗