Editorial: Emerging Technologies Powering Rare and Neglected Disease Diagnosis and Theraphy Development by Zhichao Liu, Qais Hatim, Shraddha Thakkar, Ruth Roberts, Ruth Roberts, Tieliu Shi, Tieliu Shi

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Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria by Yibao Fu, Jinmeng Jia, Lishu Yue, Ruiying Yang, Yongli Guo, Yongli Guo, Yongli Guo, Xin Ni, Xin Ni, Xin Ni, Tieliu Shi, Tieliu Shi

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Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease by Jingru Shi, Meng Ren, Jinmeng Jia, Muxue Tang, Yongli Guo, Yongli Guo, Yongli Guo, Xin Ni, Xin Ni, Xin Ni, Tieliu Shi, Tieliu Shi

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Corrigendum: Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease by Jingru Shi, Meng Ren, Jinmeng Jia, Muxue Tang, Yongli Guo, Yongli Guo, Yongli Guo, Xin Ni, Xin Ni, Xin Ni, Tieliu Shi, Tieliu Shi

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Editorial: Advancing Genomics for Rare Disease Diagnosis and Therapy Development by Zhichao Liu, Ruth Roberts, Ruth Roberts, Ruth Roberts, Tieliu Shi, Mike Mikailov, Weida Tong

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The role of CYP1A1/2 in cholesterol ester accumulation provides a new perspective for the treatment of hypercholesterolemia by Jian Lu, Xuyang Shang, Bingyi Yao, Dongyi Sun, Jie Liu, Yuanjin Zhang, He Wang, Jingru Shi, Huaqing Chen, Tieliu Shi, Mingyao Liu, Xin Wang

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Disease spectrum analysis of hospitalized children in China: A study of 18 tertiary children's hospitals by Guoshuang Feng, Yueping Zeng, Jian Tian, Xinyu Wang, Jun Tai, Fei Song, Xin Zhang, Xin Xu, Jun Chen, Tieliu Shi, Xin Ni, Futang Research Center of Pediatric Development (FRCPD)

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