Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome by Qi Yang, Qi Yang, Di Gong, Shang Yi, Shang Yi, Jingsi Luo, Jingsi Luo, Qinle Zhang, Qinle Zhang, Qinle Zhang

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Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing by Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi, Jingsi Luo

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Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review by Qi Yang, Qiang Zhang, Zailong Qin, Shujie Zhang, Sheng Yi, Shang Yi, Qinle Zhang, Jingsi Luo

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Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia by Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng, Xin Fan

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations by Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan

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