1. "A fly appeared": sable, a classic Drosophila mutation, maps to Yippee, a gene affecting body color, wings, and bristles. Issue 5 (10th March 2022) Authors: Dean, Derek M; Deitcher, David L; Paster, Caleigh O; Xu, Manting; Loehlin, David W Editors: Salz, H Journal: G3 Issue: Volume 12:Issue 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. Issue 2 (8th January 2022) Authors: Jiang, Huafang; Alahmad, Ahmad; Fu, Song; Fu, Xiaoling; Liu, Zhimei; Han, Xiaodi; Li, Lanlan; Song, Tianyu; Xu, Manting; Liu, Shanshan; Wang, Junling; Albash, Buthaina; Alaqeel, Ahmad; Catalina, Vasilescu; Prokisch, Holger; Taylor, Robert W.; McFarland, Robert; Fang, Fang Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. Issue 4 (2nd April 2021) Authors: Liu, Zhimei; Zhang, Li; Ren, Changhong; Xu, Manting; Li, Shufang; Ban, Rui; Wu, Ye; Chen, Ling; Sun, Suzhen; Elstner, Matthias; Shimura, Masaru; Ogawa-Tominaga, Minako; Murayama, Kei; Shi, Tieliu; Prokisch, Holger; Fang, Fang Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗