1. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype. Issue 1 (25th February 2015) Authors: Parenti, I.; Gervasini, C.; Pozojevic, J.; Graul‐Neumann, L.; Azzollini, J.; Braunholz, D.; Watrin, E.; Wendt, K.S.; Cereda, A.; Cittaro, D.; Gillessen‐Kaesbach, G.; Lazarevic, D.; Mariani, M.; Russo, S.; Werner, R.; Krawitz, P.; Larizza, L.; Selicorni, A.; Kaiser, F.J. Journal: Clinical genetics Issue: Volume 89:Issue 1(2016) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the clinical spectrum of the 'HDAC8‐phenotype' – implications for molecular diagnostics, counseling and risk prediction. Issue 5 (25th January 2016) Authors: Parenti, I.; Gervasini, C.; Pozojevic, J.; Wendt, K.S.; Watrin, E.; Azzollini, J.; Braunholz, D.; Buiting, K.; Cereda, A.; Engels, H.; Garavelli, L.; Glazar, R.; Graffmann, B.; Larizza, L.; Lüdecke, H.J.; Mariani, M.; Masciadri, M.; Pié, J.; Ramos, F.J.; Russo, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. (26th January 2014) Authors: Baquero‐Montoya, C.; Gil‐Rodríguez, M.C.; Braunholz, D.; Teresa‐Rodrigo, M.E.; Obieglo, C.; Gener, B.; Schwarzmayr, T.; Strom, T.M.; Gómez‐Puertas, P.; Puisac, B.; Gillessen‐Kaesbach, G.; Musio, A.; Ramos, F.J.; Kaiser, F.J.; Pié, J. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗