1. Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. (7th January 2019) Authors: Loveday, Chey; Tatton-Brown, Katrina; Clarke, Matthew; Westwood, Isaac; Renwick, Anthony; Ramsay, Emma; Nemeth, Andrea; Campbell, Jennifer; Joss, Shelagh; Gardner, McKinlay; Zachariou, Anna; Elliott, Anna; Ruark, Elise; Montfort, Rob van; Rahman, Nazneen Journal: Human molecular genetics Issue: Volume 28:Number 9(2019) Page Start: 1578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. Issue 1 (December 2015) Authors: Münz, Márton; Ruark, Elise; Renwick, Anthony; Ramsay, Emma; Clarke, Matthew; Mahamdallie, Shazia; Cloke, Victoria; Seal, Sheila; Strydom, Ann; Lunter, Gerton; Rahman, Nazneen Journal: Genome medicine Issue: Volume 7:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of new Wilms tumour predisposition genes: an exome sequencing study. (May 2019) Authors: Mahamdallie, Shazia; Yost, Shawn; Poyastro-Pearson, Emma; Holt, Esty; Zachariou, Anna; Seal, Sheila; Elliott, Anna; Clarke, Matthew; Warren-Perry, Margaret; Hanks, Sandra; Anderson, John; Bomken, Simon; Cole, Trevor; Farah, Roula; Furtwaengler, Rhoikos; Glaser, Adam; Grundy, Richard; Hayden, Jame... Journal: Lancet Issue: Volume 3:Number 5(2019) Page Start: 322 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗