Jiansheng Xie

Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

Zirui Dong, Jun Zhang, Ping Hu et al. · Genetics in Medicine · 2016 · 223 citations · Full text

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

Ping Fang, Liang Li, Jian Zeng et al. · BMC Musculoskeletal Disorders · 2015 · 46 citations · Full text

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Fu Xiong, Qiuying Huang, Xiaoyun Chen et al. · Journal of Molecular Diagnostics · 2011 · 41 citations · Full text

Genetic Analysis, Genetic Testing, Medicine +10

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

Peining Li, Paweł Pomianowski, Miriam S. DiMaio et al. · American Journal of Medical Genetics Part A · 2011 · 39 citations

Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

Xiaoming Wei, Yan Sun, Jiansheng Xie et al. · Clinica Chimica Acta · 2012 · 23 citations

Chinese Patient, Mendelian Disorder, Genetic Disorder +8