Publications:

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The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Human Genomics

Zhang, Chuan C; Zhang, Pei P; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2023-04-25

Variant appearance in text: PAH: 764T>C

PubMed Link: 37098607

Variant Present in the following documents:

• 40246_2023_Article_475.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PAH: 764T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: PAH: 764T>C

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

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Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.

Bmc Medical Genomics

Chen, Chao C; Chen, Min M; Zhu, Yaping Y; Jiang, Lu L; Li, Jia J; Wang, Yaoshen Y; Lu, Zhe Z; Guo, Fengyu F; Wang, Hairong H; Peng, Zhiyu Z; Yang, Yun Y; Sun, Jun J

Publication Date: 2021-10-09

Variant appearance in text: PAH: 764T>C

PubMed Link: 34627256

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1091.pdf

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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: 764T>C

PubMed Link: 34039861

Variant Present in the following documents:

• cm9-134-1626-s001.pdf

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Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Bioscience Reports

Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X

Publication Date: 2021-02-26

Variant appearance in text: PAH: 764T>C; L255S

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• bsr-41-bsr20201660.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PAH: 764T>C; Leu255Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.

Acs Omega

Yan, Yousheng Y; Jin, Xiaohua X; Wang, Xing X; Zhang, Chuan C; Zhang, Qinhua Q; Zheng, Lei L; Feng, Xuan X; Hao, Shengju S; Gao, Huafang H; Ma, Xu X

Publication Date: 2020-02-04

Variant appearance in text: PAH: 764T>C

PubMed Link: 32039316

Variant Present in the following documents:

• Main text

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A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Frontiers In Genetics

Zhang, Wanqiao W; Yang, Yao Y; Peng, Wei W; Chang, Juan J; Mei, Yabo Y; Yan, Lei L; Chen, Yuhan Y; Wei, Xiujuan X; Liu, Yabin Y; Wang, Yan Y; Feng, Zhichun Z

Publication Date: 2019

Variant appearance in text: PAH: 764T>C; L255S

PubMed Link: 31998365

Variant Present in the following documents:

• Main text
• fgene-10-01302.pdf

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The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine

Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W

Publication Date: 2019-06

Variant appearance in text: PAH: 764T>C; L255S

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports

Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q

Publication Date: 2018-11-20

Variant appearance in text: PAH: 764T>C; L255S

PubMed Link: 30459323

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35373.pdf
• 41598_2018_35373_MOESM1_ESM.pdf

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Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

Scientific Reports

Li, Nana N; He, Chunhua C; Li, Jing J; Tao, Jing J; Liu, Zhen Z; Zhang, Chunyan C; Yuan, Yuan Y; Jiang, Hui H; Zhu, Jun J; Deng, Ying Y; Guo, Yixiong Y; Li, Qintong Q; Yu, Ping P; Wang, Yanping Y

Publication Date: 2018-07-26

Variant appearance in text: PAH: L255S

PubMed Link: 30050108

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29640.pdf

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Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.

Scientific Reports

Ye, Jun J; Chen, Chao C; Yuan, Yuan Y; Han, Lianshu L; Wang, Yaoshen Y; Qiu, Wenjuan W; Zhang, Huiwen H; Asan, ; Gu, Xuefan X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 764T>C

PubMed Link: 29317692

Variant Present in the following documents:

• Main text

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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 764T>C; Leu255Ser

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports

Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X

Publication Date: 2017-07-28

Variant appearance in text: PAH: Leu255Ser

PubMed Link: 28754886

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6462.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: L255S

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: 764T>C; L255S

PubMed Link: 26322415

Variant Present in the following documents:

• pr2015167a.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: L255S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.

International Journal Of Clinical And Experimental Medicine

Yu, Wuzhong W; He, Jiang J; Yang, Xi X; Zou, Hongyun H; Gui, Junhao J; Wang, Rui R; Yang, Liu L; Wang, Zheng Z; Lei, Quan Q

Publication Date: 2014

Variant appearance in text: PAH: 764T>C; L255S

PubMed Link: 25550961

Variant Present in the following documents:

• Main text

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Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports

Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC

Publication Date: 2012

Variant appearance in text: PAH: L255S

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

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Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.

Genetics And Molecular Biology

Zhou, Yong-An YA; Ma, Yun-Xia YX; Zhang, Quan-Bin QB; Gao, Wei-Hua WH; Liu, Jian-Ping JP; Yang, Jian-Ping JP; Zhang, Gai-Xiu GX; Zhang, Xiao-Gang XG; Yu, Liang L

Publication Date: 2012-12

Variant appearance in text: PAH: L255S

PubMed Link: 23271928

Variant Present in the following documents:

• Main text
• gmb-35-709.pdf

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The role of protein structural analysis in the next generation sequencing era.

Topics In Current Chemistry

Yue, Wyatt W WW; Froese, D Sean DS; Brennan, Paul E PE

Publication Date: 2014

Variant appearance in text: PAH: L255S

PubMed Link: 22610134

Variant Present in the following documents:

• Main text
• 978-3-642-39942-8_Chapter_326.pdf

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Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins

Shi, Zhen Z; Sellers, Jenn J; Moult, John J

Publication Date: 2012-01

Variant appearance in text: PAH: L255S

PubMed Link: 21953985

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: PAH: L255S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: L255S

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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