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Gene|November 20, 2020
Whole exome sequencing for non-selective pediatric patients with hyperlipidemiaXuyun Hu, Lamei Chen, Chunxiu Gong, et al.
BMJ Paediatrics Open|June 1, 2024
Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristicsQiqing Sun, Jun Guo, Yaodong Zhang, et al.
Communications Medicine|November 14, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newbornsChanjuan Hao, Xuyun Hu, Ruolan Guo, et al.
BMJ Paediatrics Open|July 5, 2023
NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disordersXuanshi Liu, Wenjian Xu, Fei Leng, et al.
Molecular Genetics & Genomic Medicine|July 4, 2019
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathyJun Guo, Zheng Li, Chanjuan Hao, et al.
Pediatric Investigation|August 28, 2020
Whole-exome sequencing reveals two <i>de novo</i> variants in the <i>RBM20</i> gene in two Chinese patients with left ventricular non-compaction cardiomyopathyQiqing Sun, Jun Guo, Chanjuan Hao, et al.
Orphanet Journal of Rare Diseases|September 30, 2021
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4Yuanying Chen, Boliang Fang, Xuyun Hu, et al.
Frontiers in Medicine|September 16, 2022
Identification of a novel variant in N-cadherin associated with dilated cardiomyopathyYuanying Chen, Qiqing Sun, Chanjuan Hao, et al.
Genetic Testing and Molecular Biomarkers|December 28, 2022
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous VariantsWenyan Zhang, Feng Jin, Ruolan Guo, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 13, 2026
Novel <i>NPR2</i> heterozygous variant in a familial short stature and the therapeutic response to rhGH: a case reportDongmei Wang, Xuyun Hu, Shan Su, et al.
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