1. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Issue 2 (15th October 2018) Authors: Sega, Annalisa G; Mis, Emily K; Lindstrom, Kristin; Mercimek-Andrews, Saadet; Ji, Weizhen; Cho, Megan T; Juusola, Jane; Konstantino, Monica; Jeffries, Lauren; Khokha, Mustafa K; Lakhani, Saquib Ali Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Issue 7 (6th July 2020) Authors: Marquez, Jonathan; Mann, Nina; Arana, Kathya; Deniz, Engin; Ji, Weizhen; Konstantino, Monica; Mis, Emily K; Deshpande, Charu; Jeffries, Lauren; McGlynn, Julie; Hugo, Hannah; Widmeier, Eugen; Konrad, Martin; Tasic, Velibor; Morotti, Raffaella; Baptista, Julia; Ellard, Sian; Lakhani, Saquib Ali; Hi... Journal: Journal of medical genetics Issue: Volume 58:Issue 7(2021) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗