Publications:

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Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Bmc Medical Genomics

Peng, Dai D; Ganye, Zhao Z; Gege, Sun S; Yanjie, Xia X; Ning, Liu L; Xiangdong, Kong K

Publication Date: 2021-12-17

Variant appearance in text: PAH: 875C>T

PubMed Link: 34920737

Variant Present in the following documents:

• Main text

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Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Bmc Medical Genomics

Peng, Dai D; Ganye, Zhao Z; Gege, Sun S; Yanjie, Xia X; Ning, Liu L; Xiangdong, Kong K

Publication Date: 2021-12-17

Variant appearance in text: PAH: 875C>T

PubMed Link: 34920737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.

Chinese Medical Journal

Xiao, Yang Y; Gu, Qiang Q; Wu, Hai-Rong HR; Wang, Song-Tao ST; Pei, Pei P; Zheng, Xue-Fei XF; Pan, Hong H; Ma, Yi-Nan YN

Publication Date: 2021-05-19

Variant appearance in text: PAH: 875C>T

PubMed Link: 34039861

Variant Present in the following documents:

• cm9-134-1626-s001.pdf

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Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

Frontiers In Genetics

Gao, Chao C; Wang, Xiaona X; Mei, Shiyue S; Li, Dongxiao D; Duan, Jiali J; Zhang, Pei P; Chen, Baiyun B; Han, Liang L; Gao, Yang Y; Yang, Zhenhua Z; Li, Bing B; Yang, Xiu-An XA

Publication Date: 2019

Variant appearance in text: PAH: Pro292Leu

PubMed Link: 31178897

Variant Present in the following documents:

• Main text
• fgene-10-00485.pdf

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Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports

Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J

Publication Date: 2015-10-27

Variant appearance in text: PAH: P292L

PubMed Link: 26503515

Variant Present in the following documents:

• Main text

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Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric Research

Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J

Publication Date: 2015-12

Variant appearance in text: PAH: 875C>T; P292L

PubMed Link: 26322415

Variant Present in the following documents:

• pr2015167a.pdf

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Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One

Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J

Publication Date: 2014

Variant appearance in text: PAH: 875C>T; P292L

PubMed Link: 24705691

Variant Present in the following documents:

• Main text
• pone.0094100.pdf
• pone.0094100.s010.xlsx, sheet 1

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