Yong-Guo Yu (Yongguo Yu)

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 29

Top Topics

Intellectual Disability

Top Venues

Journal of human genetics

Journal of pediatric endocrinology & metabolism : JPEM

This page only lists publications with an associated author ORCID identifier.

Publications

Xiaojie Yin, Qiyu Dong, Shuanglong Fan, Lina Yang, Hao Li, Yijun Jin, Mahlatsi Refiloe Laurentinah, Xiandan Chen, Aliaksei Sysa, Hezhi Fang, Jianxin Lyu, Yong-Guo Yu, Ya Wang
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNA Gln causes developmental delay. Journal of human genetics 69 (8) (2024)
Ruifang Wang, Xiaomei Luo, Yu Sun, Lili Liang, Aiping Mao, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Lianshu Han, Huiwen Zhang, Xuefan Gu, Wenjuan Qiu, Yong-Guo Yu
Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort. The Journal of clinical endocrinology and metabolism (2024)
Luyan Yan, Bin Ye, Min Yang, Yongsheng Shan, Dan Yan, DanFeng Fang, Kaichuang Zhang, Yong-Guo Yu
Gut microbiota and metabolic changes in children with idiopathic short stature. BMC pediatrics 24 (1) (2024)
Xiaojie Yin, Qiyu Dong, Shuanglong Fan, Lina Yang, Hao Li, Yijun Jin, Mahlatsi Refiloe Laurentinah, Xiandan Chen, Aliaksei Sysa, Hezhi Fang, Jianxin Lyu, Yong-Guo Yu, Ya Wang
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNA Gln causes developmental delay. Journal of human genetics (2024)
Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan, Yong-Guo Yu
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders. Genome medicine 16 (1) (2024)
Xiaojie Yin, Qiyu Dong, Shuanglong Fan, Lina Yang, Hao Li, Yijun Jin, Mahlatsi Refiloe Laurentinah, Xiandan Chen, Aliaksei Sysa, Hezhi Fang, Jianxin Lyu, Yong-Guo Yu, Ya Wang
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNA Gln causes developmental delay. Journal of human genetics 69 (8) (2024)
Luyan Yan, Bin Ye, Min Yang, Yongsheng Shan, Dan Yan, DanFeng Fang, Kaichuang Zhang, Yong-Guo Yu
Gut microbiota and metabolic changes in children with idiopathic short stature. BMC pediatrics 24 (1) (2024)
Xiaoyan Huo, Xinyi Lu, Deyun Lu, Huili Liu, Yi Liu, Qianfeng Zhao, Yu Sun, Weiqian Dai, Wenjuan Qiu, Yong-Guo Yu, Yanjie Fan
Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders? Clinical chemistry and laboratory medicine (2024)
Luyan Yan, Bin Ye, Min Yang, Yongsheng Shan, Dan Yan, DanFeng Fang, Kaichuang Zhang, Yong-Guo Yu
Gut microbiota and metabolic changes in children with idiopathic short stature. BMC pediatrics 24 (1) (2024)
Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lian-Shu Han, Yong-Guo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients. Journal of medical genetics (2023)
Weiqian Dai, He Wang, Yongkun Zhan, Nan Li, Fei Li, Jingmin Wang, Huifang Yan, Yu Zhang, Junyu Wang, Lingqian Wu, Huili Liu, Yanjie Fan, Yue Tao, Xi Mo, Jian-Jun Yang, Kun Sun, Guiquan Chen, Yong-Guo Yu
CCNK gene deficiency influences neural progenitor cells via Wnt5a signaling in CCNK-related syndrome. Annals of neurology (2023)
Weiqian Dai, Yu Sun, Yanjie Fan, Yan Gao, Yongkun Zhan, Lili Wang, Bing Xiao, Wenjuan Qiu, Xuefan Gu, Kun Sun, Yong-Guo Yu, Na Xu
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations. European journal of human genetics : EJHG (2022)
Yanjie Fan, Ying Zhou, Huili Liu, Xiaomei Luo, Ting Xu, Yu Sun, Tingting Yang, Linlin Chen, Xuefan Gu, Yong-Guo Yu
Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools. Clinical genetics (2022)
Yu Sun, Jing Peng, Desheng Liang, Xiantao Ye, Na Xu, Linlin Chen, Dan Yan, Huiwen Zhang, Bing Xiao, Wenjuan Qiu, Yiping Shen, Nan Pang, Yingdi Liu, Chen Liang, Zailong Qin, Jingsi Luo, Fei Chen, Jingmin Wang, Zhixin Zhang, Haiyan Wei, Juan Du, Huifang Yan, Ruoyu Duan, Junyu Wang, Yu Zhang, Bingtao Hao, Kun Sun, Lingqian Wu, Yong-Guo Yu
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study. Human mutation 43 (5) (2022)
Xiaomei Luo, Ying Duan, Di Fang, Yu Sun, Bing Xiao, Huiwen Zhang, Lian-Shu Han, Lili Liang, Zhuwen Gong, Xuefan Gu, Yong-Guo Yu, Wenjuan Qiu
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Human mutation 43 (5) (2022)
Dan Yan, Yu Sun, Na Xu, Yong-Guo Yu, Yongkun Zhan, null null
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants. Molecular genetics & genomic medicine 10 (11) (2022)
Weiqian Dai, Xia Zhang, Huili Liu, Yu Sun, Yanjie Fan, Yong-Guo Yu
Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH). Journal of pediatric endocrinology & metabolism : JPEM 33 (9) (2021)
Ting Xu, Liang Shi, Weiqian Dai, Xuefan Gu, Yong-Guo Yu, Yanjie Fan
An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia. Journal of pediatric endocrinology & metabolism : JPEM 34 (10) (2021)
Weiqian Dai, Deyun Lu, Xuefan Gu, Yong-Guo Yu, null null
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview. Molecular genetics & genomic medicine 8 (3) (2020)
Xiaomin Liu, Guorui Hu, Jun Ye, Bin Ye, Nan Shen, Yue Tao, Xia Zhang, Yanjie Fan, Huili Liu, Zhigang Zhang, Danfeng Fang, Xuefan Gu, Xi Mo, Yong-Guo Yu
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. Human mutation 41 (5) (2020)
Yanjie Fan, Lili Wang, Yu Sun, Ting Xu, Zhuwen Gong, Qianfeng Zhao, Wenjuan Qiu, Lili Liang, Bing Xiao, Huiwen Zhang, Lianshu Han, Fujun Lin, Rang Xu, Xuefan Gu, Yong-Guo Yu
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays. Journal of human genetics 66 (4) (2020)
Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li, Yong-Guo Yu
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes. Orphanet journal of rare diseases 15 (1) (2020)
Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang, Xuefan Gu, Yong-Guo Yu
Identification of RUNX2 variants associated with cleidocranial dysplasia. Hereditas 156 (2019)
Lili Liang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Yong-Guo Yu, Tianwen Zhu, Feng Xu, Xia Zhan, Peizhong Bao, Wenjun Ji, Xuefan Gu
Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia. Journal of clinical laboratory analysis 34 (3) (2019)
Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yong-Guo Yu
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome Journal of clinical research in pediatric endocrinology 11 (4) (2019)
Xue-Ren Gao, Yong-Guo Yu
Meta-Analysis of the Association between Vitamin D Receptor Polymorphisms and the Risk of Autoimmune Thyroid Disease. International journal of endocrinology 2018 (2018)
Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang, Xia Zhang, Xiaomin Liu, Xuefan Gu, Yong-Guo Yu
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. BMC medical genomics 11 (1) (2018)
Xiaomei Luo, Ruifang Wang, Yanjie Fan, Xuefan Gu, Yong-Guo Yu
Next-generation sequencing as a second-tier diagnostic test for newborn screening. Journal of pediatric endocrinology & metabolism : JPEM 31 (8) (2018)
Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu, Yong-Guo Yu
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. BMC medical genomics 10 (1) (2017)