1. An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. (December 2018) Authors: Chen, Heidi; Jagadeesh, Karthik; Birgmeier, Johannes; Wenger, Aaron; Guturu, Harendra; Schelley, Susan; Bernstein, Jonathan; Bejerano, Gill Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects. (17th November 2014) Authors: Brennan, Marie‐Luise; Adam, Margaret P.; Seaver, Laurie H.; Myers, Angela; Schelley, Susan; Zadeh, Neda; Hudgins, Louanne; Bernstein, Jonathan A. Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pathogenic variants in HTRA2 cause an early‐onset mitochondrial syndrome associated with 3‐methylglutaconic aciduria. Issue 1 (30th September 2016) Authors: Oláhová, Monika; Thompson, Kyle; Hardy, Steven A.; Barbosa, Inês A.; Besse, Arnaud; Anagnostou, Maria‐Eleni; White, Kathryn; Davey, Tracey; Simpson, Michael A.; Champion, Michael; Enns, Greg; Schelley, Susan; Lightowlers, Robert N.; Chrzanowska‐Lightowlers, Zofia M. A.; McFarland, Robert; Deshpan... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗