1. Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Issue 4 (22nd January 2018) Authors: Alaimo, Joseph T.; Besse, Arnaud; Alston, Charlotte L.; Pang, Ki; Appadurai, Vivek; Samanta, Monisha; Smpokou, Patroula; McFarland, Robert; Taylor, Robert W.; Bonnen, Penelope E. Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Menkes disease in affected females: The clinical disease spectrum. (26th November 2014) Authors: Smpokou, Patroula; Samanta, Monisha; Berry, Gerard T.; Hecht, Leah; Engle, Elizabeth C.; Lichter‐Konecki, Uta Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗