학술논문

1. ARTICLE

Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability

저자: by Liu, Jing ^{a, 1}; Chen, Baiyun ^{b, 1}; Liu, Yuchun ^a; Kong, Jinghui ^a; Zhang, Bo ^a; Han, Liang ^b; Mei, Daoqi ^c; Ma, Cai Yun ^b; Shang, Qing ^b; Xie, Zhenhua ^a; Xiao, Mengjun ^a; Mei, Shiyue ^a; Zhang, Yaodong ^a; Gao, Chao ^{b, ∗∗}; Li, Dongxiao ^{a, ∗}
소스: In European Journal of Medical Genetics September 2022 65(9)

2. ARTICLE

A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome

저자: by Jiao, Zhihui ^{a, d}; Zhao, Xuechao ^a; Wang, Yanhong ^b; Wei, Erhu ^c; Mei, Shiyue ^b; Liu, Ning ^a; Kong, Xiangdong ^a; Shi, Huirong ^{d, ∗}
소스: In European Journal of Medical Genetics April 2022 65(4)

3. ARTICLE

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy

저자: by Zhao, Xuechao ^a; Wang, Yanhong ^b; cai, Aojie ^c; Mei, Shiyue ^b; Liu, Ning ^a; Kong, Xiangdong ^{a, ∗}
소스: In European Journal of Medical Genetics January 2021 64(1)

4. ARTICLE

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype

저자: by Zhao, Xuechao ^a; Wang, Yanhong ^b; Mei, Shiyue ^b; Chen, Chen ^a; Liu, Lina ^a; Wang, Conghui ^a; Zhao, Ganye ^a; Kong, Xiangdong ^{a, ∗}
소스: In European Journal of Medical Genetics September 2020 63(9)

5. ARTICLE

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.

저자: by Wang, Yanhong^1,2 (AUTHOR); Zheng, Xuan¹ (AUTHOR); Feng, Chao¹ (AUTHOR); Fan, Xiaoge³ (AUTHOR); Liu, Lei¹ (AUTHOR); Guo, Pengbo¹ (AUTHOR); Lei, Zhi¹ (AUTHOR); Mei, Shiyue^1,2 (AUTHOR) xiaomay2008@163.com
소스: Molecular Genetics & Genomic Medicine. Aug2022, p1. 6p. 2 Illustrations, 1 Chart.

6. ARTICLE

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

저자: by Zhao, Xuechao¹ (AUTHOR); Ning, Haofeng² (AUTHOR); Wang, Yanhong³ (AUTHOR); Zhao, Ganye¹ (AUTHOR); Mei, Shiyue³ (AUTHOR); Liu, Ning¹ (AUTHOR); Wang, Conghui¹ (AUTHOR); Cai, Aojie⁴ (AUTHOR); Wei, Erhu⁵ (AUTHOR); Kong, Xiangdong¹ (AUTHOR) kxd1968@163.com
소스: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4439-4451. 13p. 1 Diagram, 2 Charts, 1 Graph.

7. ARTICLE

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.

저자: by Zhao, Xuechao¹ (AUTHOR); Zheng, Yuting¹ (AUTHOR); Wang, Li¹ (AUTHOR); Wang, Yanhong² (AUTHOR); Mei, Shiyue² (AUTHOR); Kong, Xiangdong¹ (AUTHOR) kongxd@263.net
소스: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-7. 7p.

8. ARTICLE

Terminal dual-labeling of a transcribed RNA

저자: by Li, Shibo ^{a, †}; Ma, Dejun ^{a, †}; Yi, Long ^{b, c, ⁎}; Mei, Shiyue ^a; Ouyang, Di ^a; Xi, Zhen ^{a, c, ⁎}
소스: In Bioorganic & Medicinal Chemistry Letters 1 December 2013 23(23):6304-6306

9. ARTICLE

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

저자: by Zhao, Xuechao¹ (AUTHOR); Wang, Yanhong² (AUTHOR); Mei, Shiyue² (AUTHOR); Kong, Xiangdong¹ (AUTHOR) kxd1968@163.com
소스: Molecular Genetics & Genomic Medicine. Jun2020, Vol. 8 Issue 6, p1-7. 7p.

10. ARTICLE

Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation.

저자: by Mei, Shiyue; Ma, Chao; Cheng, Yibing; Qian, Suyun; Jin, Zhipeng
소스: Pediatric Investigation; Jun2019, Vol. 3 Issue 2, p122-126, 5p

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