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Clinica Chimica Acta; International Journal of Clinical Chemistry|April 25, 2016
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patientsChunyun Fu, Shiyu Luo, Shujie Zhang, et al.
BMC Medical Genomics|May 21, 2024
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomesXiaojiao Wei, Yunting Ma, Bobo Xie, et al.
Biology of Sex Differences|February 12, 2026
A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South ChinaXiaoyun Lei, Xu Zhou, Zifeng Cheng, et al.
Molecular Genetics and Metabolism Reports|July 11, 2018
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiencyXin Fan, Bobo Xie, Jun Zou, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 18, 2017
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidismChunyun Fu, Shiyu Luo, Xigui Long, et al.
Endocrine Connections|October 28, 2017
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CHChunyun Fu, Shiyu Luo, Yingfeng Li, et al.
Gene|September 5, 2016
A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33Jin Wang, Chunyun Fu, Shujie Zhang, et al.
Molecular Genetics & Genomic Medicine|March 12, 2020
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationshipWeiliang Lu, Mingxing Liang, Jiasun Su, et al.
Scientific Reports|July 26, 2019
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 casesDahua Meng, Qifei Li, Xuehua Hu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 13, 2015
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidismChunyun Fu, Rongyu Chen, Shujie Zhang, et al.
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