Biparental inheritance of mitochondrial DNA in humans S Luo, CA Valencia, J Zhang, NC Lee, J Slone, B Gui, X Wang, Z Li, ... Proceedings of the National Academy of Sciences 115 (51), 13039-13044, 2018 | 527 | 2018 |
Live birth derived from oocyte spindle transfer to prevent mitochondrial disease J Zhang, H Liu, S Luo, Z Lu, A Chávez-Badiola, Z Liu, M Yang, Z Merhi, ... Reproductive biomedicine online 34 (4), 361-368, 2017 | 373 | 2017 |
Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations E Kang, J Wu, NM Gutierrez, A Koski, R Tippner-Hedges, K Agaronyan, ... Nature 540 (7632), 270-275, 2016 | 316 | 2016 |
Age-related accumulation of somatic mitochondrial DNA mutations in adult-derived human iPSCs E Kang, X Wang, R Tippner-Hedges, H Ma, CDL Folmes, NM Gutierrez, ... Cell stem cell 18 (5), 625-636, 2016 | 240 | 2016 |
First live birth using human oocytes reconstituted by spindle nuclear transfer for mitochondrial DNA mutation causing Leigh syndrome J Zhang, H Liu, S Luo, A Chavez-Badiola, Z Liu, S Munne, ... Fertility and Sterility 106 (3), e375-e376, 2016 | 86 | 2016 |
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients C Fu, S Luo, S Zhang, J Wang, H Zheng, Q Yang, B Xie, X Hu, X Fan, ... Clinica chimica acta 458, 30-34, 2016 | 61 | 2016 |
The phosphatidylcholine transfer protein Stard7 is required for mitochondrial and epithelial cell homeostasis L Yang, CL Na, S Luo, D Wu, S Hogan, T Huang, TE Weaver Scientific reports 7 (1), 46416, 2017 | 57 | 2017 |
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates C Fu, S Luo, Q Li, B Xie, Q Yang, G Geng, C Lin, J Su, Y Zhang, J Wang, ... Scientific reports 8 (1), 833, 2018 | 56 | 2018 |
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism X Fan, C Fu, Y Shen, C Li, S Luo, Q Li, J Luo, J Su, S Zhang, X Hu, ... Clinica Chimica Acta 468, 76-80, 2017 | 56 | 2017 |
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism C Fu, S Zhang, J Su, S Luo, H Zheng, J Wang, H Qin, Y Chen, Y Shen, ... Journal of Endocrinological Investigation 38, 1219-1224, 2015 | 45 | 2015 |
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH C Fu, S Luo, Y Li, Q Li, X Hu, M Li, Y Zhang, J Su, X Hu, Y Chen, J Wang, ... Endocrine Connections 6 (8), 926-934, 2017 | 42 | 2017 |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients C Fu, J Wang, S Luo, Q Yang, Q Li, H Zheng, X Hu, J Su, S Zhang, ... Clinica Chimica Acta 462, 127-132, 2016 | 33 | 2016 |
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature X Fan, S Zhao, C Yu, D Wu, Z Yan, L Fan, Y Song, Y Wang, C Li, Y Ming, ... Journal of Genetics and Genomics 48 (5), 396-402, 2021 | 32 | 2021 |
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases D Meng, Q Li, X Hu, L Wang, S Tan, J Su, Y Zhang, W Sun, B Chen, S He, ... Scientific reports 9 (1), 10726, 2019 | 32 | 2019 |
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism C Fu, B Xie, S Zhang, J Wang, S Luo, H Zheng, J Su, X Hu, R Chen, X Fan, ... BMJ open 6 (5), e010719, 2016 | 32 | 2016 |
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency X Fan, B Xie, J Zou, J Luo, Z Qin, AM D'Gama, J Shi, S Yi, Q Yang, J Wang, ... Molecular genetics and metabolism reports 16, 15-19, 2018 | 29 | 2018 |
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism C Fu, S Luo, X Long, Y Li, S She, X Hu, M Mo, Z Wang, Y Chen, C He, ... Clinica Chimica Acta 476, 38-43, 2018 | 27 | 2018 |
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism C Fu, R Chen, S Zhang, S Luo, J Wang, Y Chen, H Zheng, J Su, X Hu, ... Clinica chimica acta 450, 322-326, 2015 | 24 | 2015 |
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments S Luo, CA Valencia, J Zhang, NC Lee, J Slone, B Gui, X Wang, Z Li, ... Proceedings of the National Academy of Sciences 116 (6), 1823-1824, 2019 | 23 | 2019 |
Genetic testing and pregnancy outcome analysis of 362 fetuses with congenital heart disease identified by prenatal ultrasound S Luo, D Meng, Q Li, X Hu, Y Chen, C He, B Xie, S She, Y Li, C Fu Arquivos brasileiros de cardiologia 111 (4), 571-577, 2018 | 19 | 2018 |