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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.Gene|February 21, 2018
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndromeBaoheng Gui, Yanning Song, Xuyun Hu, et al.Human Genomics|September 16, 2024
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mappingYunting Ma, Chunrong Gui, Meizhen Shi, et al.Journal of Medical Genetics|June 13, 2019
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of <i>SRD5A2</i> in 190 Chinese patientsBaoheng Gui, Yanning Song, Zhe Su, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|October 4, 2017
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variantsXuyun Hu, Hongdou Li, Baoheng Gui, et al.Journal of Assisted Reproduction and Genetics|July 12, 2019
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM)Queenie S Y Yeung, Ying Xin Zhang, Jacqueline P W Chung, et al.BMC Medicine|December 11, 2025
Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in GuangxiWei Wei, Chunrong Gui, Lixia Zhan, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|September 18, 2016
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patientsChunyun Fu, Jin Wang, Shiyu Luo, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|April 12, 2017
Novel pathogenic ACAN variants in non-syndromic short stature patientsXuyun Hu, Baoheng Gui, Jiasun Su, et al.Pageof 4