Publications:

The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X

Publication Date: 2018-09

Variant appearance in text: RET: 2578C>T

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

View BVdb publication page

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.

Orphanet Journal Of Rare Diseases

Jiang, Qian Q; Wang, Yang Y; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Wang, Hui H; Liu, Na N; Wu, Jian J; Zhang, Feng F; Chakravarti, Aravinda A; Cai, Wei W; Li, Long L

Publication Date: 2019-10-30

Variant appearance in text: RET: Gln860*

PubMed Link: 31666091

Variant Present in the following documents:

• Main text

View BVdb publication page

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Frontiers In Genetics

Wang, Hui H; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Li, Long L; Jiang, Qian Q

Publication Date: 2019

Variant appearance in text: RET: 2578C>T; Q860X

PubMed Link: 31649719

Variant Present in the following documents:

• Main text
• fgene-10-00924.pdf

View BVdb publication page

RET somatic mutations are underrecognized in Hirschsprung disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Jiang, Qian Q; Liu, Fang F; Miao, Chunyue C; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Su, Lin L; Yu, Kaihui K; Chen, Xiaoli X; Zhang, Feng F; Chakravarti, Aravinda A; Li, Long L

Publication Date: 2018-07

Variant appearance in text: RET: 2578C>T; Gln860X

PubMed Link: 29261189

Variant Present in the following documents:

• Main text

View BVdb publication page

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.

Scientific Reports

Zhang, Zhen Z; Li, Qi Q; Diao, Mei M; Liu, Na N; Cheng, Wei W; Xiao, Ping P; Zou, Jizhen J; Su, Lin L; Yu, Kaihui K; Wu, Jian J; Li, Long L; Jiang, Qian Q

Publication Date: 2017-11-01

Variant appearance in text: RET: 2578C>T; Q860X

PubMed Link: 29093530

Variant Present in the following documents:

• Main text
• 41598_2017_Article_14835.pdf

View BVdb publication page