1. Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. (25th May 2022) Authors: Vona, B.; Schwartzbaum, D.A.; Rodriguez, A.A.; Lewis, S.S.; Toosi, M.B.; Radhakrishnan, P.; Bozan, N.; Akın, R.; Doosti, M.; Manju, R.; Duman, D.; Sineni, C.J.; Nampoothiri, S.; Karimiani, E.G.; Houlden, H.; Bademci, G.; Tekin, M.; Girisha, K.M.; Maroofian, R.; Douzgou, S. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 36:Number 9(2022) Page Start: 1606 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Variants in CIB2 cause DFNB48 and not USH1J. Issue 4 (12th February 2018) Authors: Booth, K.T.; Kahrizi, K.; Babanejad, M.; Daghagh, H.; Bademci, G.; Arzhangi, S.; Zareabdollahi, D.; Duman, D.; El‐Amraoui, A.; Tekin, M.; Najmabadi, H.; Azaiez, H.; Smith, R.J. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 812 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗