Yulin Chen

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas

Qi-hua Fu, Tingting Yu, Jian Wang, 2018, Medicine.

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development

Yiping Shen, Tingting Yu, Jian Wang, 2017, Journal of child neurology.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Yiping Shen, Tingting Yu, Jian Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1

Yiping Shen, Jian Wang, Niu Li, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing

Jian Wang, J. Bu, F. Bei, 2018, Journal of clinical laboratory analysis.

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Yiping Shen, Tingting Yu, Jian Wang, 2018, Clinica chimica acta; international journal of clinical chemistry.

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development.

Yiping Shen, Tingting Yu, Jian Wang, 2019, European journal of endocrinology.