Publications:

Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.

Npj Genomic Medicine

Yang, Ying Y; Zhao, Sheng S; Sun, Guoqiang G; Chen, Fang F; Zhang, Tongda T; Song, Jieping J; Yang, Wenzhong W; Wang, Lin L; Zhan, Nianji N; Yang, Xiaohong X; Zhu, Xia X; Rao, Bin B; Yin, Zhenzhen Z; Zhou, Jing J; Yan, Haisheng H; Huang, Yushan Y; Ye, Jingyu J; Huang, Hui H; Cheng, Chen C; Zhu, Shida S; Guo, Jian J; Xu, Xun X; Chen, Xinlin X

Publication Date: 2022-05-13

Variant appearance in text: NF1: 1742dup

PubMed Link: 35562572

Variant Present in the following documents:

• Main text
• 41525_2022_301_MOESM1_ESM.pdf
• 41525_2022_Article_301.pdf

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Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: NF1: 1742dupT

PubMed Link: 34285288

Variant Present in the following documents:

• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2

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Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Human Mutation

Zhou, Wei-Zhen WZ; Zhang, Jie J; Li, Ziyi Z; Lin, Xiaojing X; Li, Jiarui J; Wang, Sheng S; Yang, Changhong C; Wu, Qixi Q; Ye, Adam Yongxin AY; Wang, Meng M; Wang, Dandan D; Pu, Tad Zhengzhang TZ; Wu, Yu-Yu YY; Wei, Liping L

Publication Date: 2019-06

Variant appearance in text: NF1: 1742dupT

PubMed Link: 30763456

Variant Present in the following documents:

• Main text

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