Publications:

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Clinical application value of expanded carrier screening in the population of childbearing age.

European Journal Of Medical Research

Fang, Yuqin Y; Li, Jingran J; Zhang, Miaomiao M; Cheng, Yuan Y; Wang, Chaohong C; Zhu, Jiansheng J

Publication Date: 2023-04-08

Variant appearance in text: PAH: F161S

PubMed Link: 37031186

Variant Present in the following documents:

• Main text
• 40001_2023_Article_1112.pdf

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Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.

Scientific Reports

Sarodaya, Neha N; Tyagi, Apoorvi A; Kim, Hyun-Jin HJ; Kang, Ju-Seop JS; Singh, Vijai V; Hong, Seok-Ho SH; Kim, Woo Jin WJ; Kim, Kye-Seong KS; Ramakrishna, Suresh S

Publication Date: 2022-08-20

Variant appearance in text: PAH: F161S

PubMed Link: 35987969

Variant Present in the following documents:

• Main text
• 41598_2022_Article_18656.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: 482T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: 482T>C; Phe161Ser

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

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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: 482T>C; Phe161Ser

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.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: 482T>C; F161S

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: 482T>C; F161S

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• bsr-41-bsr20201660.pdf

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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Scientific Reports

Zhang, Ruixue R; Qiang, Rong R; Song, Chengrong C; Ma, Xiaoping X; Zhang, Yan Y; Li, Fengxia F; Wang, Rui R; Yu, Wenwen W; Feng, Mei M; Yang, Lihui L; Wang, Xiaobin X; Cai, Na N

Publication Date: 2021-01-29

Variant appearance in text: PAH: 482T>C; Phe161Ser

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.pdf

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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: 482T>C; F161S

PubMed Link: 32039316

Variant Present in the following documents:

• Main text
• ao9b02955.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: 482T>C; F161S

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2019-02

Variant appearance in text: PAH: 482T>C

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

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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: F161S

PubMed Link: 30050108

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29640.pdf

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A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

Scientific Reports

Boemer, F F; Fasquelle, C C; d'Otreppe, S S; Josse, C C; Dideberg, V V; Segers, K K; Guissard, V V; Capraro, V V; Debray, F G FG; Bours, V V

Publication Date: 2017-12-15

Variant appearance in text: PAH: 482T>C

PubMed Link: 29247206

Variant Present in the following documents:

• Main text
• 41598_2017_Article_18038.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: Phe161Ser

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: F161S

PubMed Link: 26503515

Variant Present in the following documents:

• Main text

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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: F161S

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: 482T>C; F161S

PubMed Link: 25550961

Variant Present in the following documents:

• Main text

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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: 482T>C; F161S

PubMed Link: 24705691

Variant Present in the following documents:

• Main text
• pone.0094100.pdf
• pone.0094100.s010.xlsx, sheet 1
• pone.0094100.s009.xlsx, sheet 1

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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: F161S

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: F161S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File008.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: F161S

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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