1. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. (22nd December 2016) Authors: Takeichi, T.; Nanda, A.; Yang, H.‐S.; Hsu, C.‐K.; Lee, J.Y.‐Y.; Al‐Ajmi, H.; Akiyama, M.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 176:Number 2(2017) Page Start: 534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. (1st May 2016) Authors: Muggenthaler, M.; Petropoulou, E.; Omer, S.; Simpson, M.A.; Sahak, H.; Rice, A.; Raju, H.; Conti, F.J.; Bridges, L.R.; Anderson, L.J.; Sharma, S.; Behr, E.R.; Jamshidi, Y. Journal: International journal of cardiology Issue: Volume 210(2016) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗