Search Results - Ruolan Guo

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  1. 1

    Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders by Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao

    Published in Frontiers in Genetics (2020-06-01)
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  2. 2

    Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine by Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang

    Published in Orphanet Journal of Rare Diseases (2023-11-01)
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  3. 3

    Fumarate and nitrate reduction regulator (FNR) modulates hypermucoviscosity and virulence in hypervirulent Klebsiella pneumoniae through anaerobic adaptation by Yidan Xu, Ruolan Guo, Ruomei Wang, Zhe Su, Yulu Wu, Chengbin Xie, Pinjia Wang

    Published in Virulence (2025-12-01)
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  4. 4

    Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review by Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao

    Published in BMC Medical Genomics (2023-10-01)
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  5. 5

    CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia by Qirui Li, Ruolan Guo, Lu Gao, Lang Cui, Zhihui Zhao, Xia Yu, Yue Yuan, Xiwei Xu

    Published in Molecular Genetics & Genomic Medicine (2019-11-01)
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  6. 6

    NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders by Wei Li, Peng Zhang, Yue Zhang, Xin Ni, Ruolan Guo, Wenjian Xu, Chanjuan Hao, Xuanshi Liu, Fei Leng

    Published in BMJ Paediatrics Open (2023-12-01)
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  7. 7

    Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue by Peiyi Yang, Na Xu, Yan Su, Chao Duan, Shengcai Wang, Libing Fu, Tong Yu, Ruolan Guo, Xiaoli Ma

    Published in Frontiers in Oncology (2023-01-01)
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  8. 8

    Biallelic inactivation of SDHA results in comorbidity of pediatric recurrent neuroblastoma and gastric stromal tumor by Shen Yang, Shixuan Zhang, Wen Zhao, Libing Fu, Li Zhang, Chan Hon Chui, Ruolan Guo, Yan Su, Dayan Sun, Huanmin Wang

    Published in Genes and Diseases (2024-11-01)
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  9. 9

    Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests by Yue Zhang, Ying Li, Ruolan Guo, Wenjian Xu, Xuanshi Liu, Chunlin Zhao, Qi Guo, Wenshan Xu, Xin Ni, Chanjuan Hao, Yonghua Cui, Wei Li

    Published in Frontiers in Genetics (2023-03-01)
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  10. 10

    Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test by Wei Li, Qi Guo, Peng Zhang, Yue Zhang, Kun Xia, Lu Xia, Xin Ni, Ruolan Guo, Wenjian Xu, Chunlin Zhao, Ting Bai, Chanjuan Hao

    Published in BMJ Paediatrics Open (2023-12-01)
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  11. 11

    Mosaic DICER1 RNase IIIb hotspot mutation with multiple tumors: case report and literature review by Peiyi Yang, Mei Jin, Wen Zhao, Chao Duan, Jie Yu, Yanchao Qu, Libing Fu, Tong Yu, Xiaoman Wang, Ruolan Guo, Chunying Cui, Dong Mei, Yan Su

    Published in Frontiers in Oncology (2026-04-01)
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