Jiani ChenMsLcgc

Jiani ChenMsLcgc

Children's Hospital of Philadelphia - Philadelphia / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 5698261
person_outline Jiani ChenMsLcgc's MOST POPULAR ARTICLES
1-) Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresM Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ...European Journal of Human Genetics 27 (5), 747-759, 2019542019
2-) A novel procedure for absolute real-time quantification of gene expression patternsY Lu, L Xie, J ChenPlant Methods 8, 1-11, 2012542012
3-) Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyY Peng, DN Shinde, CA Valencia, JS Mo, J Rosenfeld, M Truitt Cho, ...Human molecular genetics 26 (24), 4937-4950, 2017522017
4-) Loss of oxidation resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunctionJ Wang, J Rousseau, E Kim, S Ehresmann, YT Cheng, L Duraine, Z Zuo, ...The American Journal of Human Genetics 105 (6), 1237-1253, 2019492019
5-) Dominant collagen XII mutations cause a distal myopathyP Mohassel, T Liewluck, Y Hu, D Ezzo, T Ogata, D Saade, S Neuhaus, ...Annals of clinical and translational neurology 6 (10), 1980-1988, 2019342019