1. Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome. Issue 3 (3rd November 2022) Authors: Devlin, Laura A.; Coles, Janice; Jackson, Claire L.; Barroso‐Gil, Miguel; Green, Ben; Walker, Woolf T.; Thomas, N. Simon; Thompson, James; Rock, Simon A.; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J.; Cordell, Heather J.; Olinger, Eric; Miles, Colin G.; Sayer, John A.; Wheway, ... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. (December 2018) Authors: Molinari, Elisa; Decker, Eva; Mabillard, Holly; Tellez, James; Srivastava, Shalabh; Raman, Shreya; Wood, Katrina; Kempf, Caroline; Alkanderi, Sumaya; Ramsbottom, Simon; Miles, Colin G.; Johnson, Colin A.; Hildebrandt, Friedhelm; Bergmann, Carsten; Sayer, John Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗