Jinjie Xue

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria

Jinjie Xue, Jing Peng, Mingxing Zhou et al. · Molecular Genetics and Metabolism · 2011 · 17 citations

Life Sciences, Genetics, Molecular Genetics +7

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Junjie Hu, Desheng Liang, Jinjie Xue et al. · PubMed · 2011 · 17 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports

Zhimin Xiong, Yanmei Lu, Jinjie Xue et al. · Journal of Medical Case Reports · 2013 · 14 citations · Full text

Life Sciences, Genetics, Pediatrics +12

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

Wenjie Wang, Jianping Yang, Jinjie Xue et al. · BMC Medical Genetics · 2019 · 14 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +17

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

Xingping Guo, Chunying Song, Yaping Shi et al. · BMC Medical Genetics · 2016 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15