Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

Xiaoming Wei, Xiang-Chun Ju, Xin Yi, +15

PLoS ONE

Serum metabolomic and lipidomic profiling identifies diagnostic biomarkers for seropositive and seronegative rheumatoid arthritis patients

Hemi Luan, Wanjian Gu, Hua Li, +12

Journal of Translational Medicine

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Xiaoming Wei, Yi Dai, Ping Yu, +25

European Journal of Human Genetics

Multi-population Diagnostic StudyNext-generation SequencingPathologyPersonal GenomicsComprehensive Test +4

Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease

Yanqin You, Yan V. Sun, Xuchao Li, +20

Genetics in Medicine

UrologyChinese FamilyMedicineGeneticsNext-generation Sequencing +9

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations

Xiao-Ping Qi, Zhenfang Du, Juming Ma, +19

Gene

Genetic DiagnosisUrologyMedicineGeneticsRenal Pathology +11

Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non‐invasive prenatal testing

Fang Chen, Ping Liu, Ying Gu, +24

Prenatal Diagnosis

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing

Yi Dai, Xiaoming Wei, Yanhuan Zhao, +5

Neuromuscular Disorders

SequencingMendelian DisorderMedicineGeneticsChinese Muscular Dystrophy +7

Application of high‐throughput, high‐resolution and cost‐effective next generation sequencing‐based large‐scale <scp>HLA</scp> typing in donor registry

mengqing zhou, Dongsheng Gao, Xianghua Chai, +21

Tissue Antigens

Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

Shuqi Xie, Zhangzhang Lan, Ning Qu, +9

Gene

Mendelian DisorderGenetic DisorderNext-generation SequencingGeneticsPathology +8

Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing

Yan Sun, Lixia Wang, Xiaoming Wei, +10

Clinica Chimica Acta

Developmental BiologyMendelian DisorderGenetic DisorderNext-generation SequencingGenetics +7