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: 1197A>T

PubMed Link: 37098607

Variant Present in the following documents:

• 40246_2023_Article_475.pdf

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Allelic phenotype prediction of phenylketonuria based on the machine learning method.

Human Genomics

Fang, Yang Y; Gao, Jinshuang J; Guo, Yaqing Y; Li, Xiaole X; Yuan, Enwu E; Yuan, Erfeng E; Song, Liying L; Shi, Qianqian Q; Yu, Haiyang H; Zhao, Dehua D; Zhang, Linlin L

Publication Date: 2023-03-31

Variant appearance in text: PAH: 1197A>T

PubMed Link: 37004080

Variant Present in the following documents:

• Main text
• 40246_2023_Article_481.pdf

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Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

Molecular Genetics & Genomic Medicine

Men, Shuai S; Liu, Shuang S; Zheng, Qin Q; Yang, Shuting S; Mao, Huafen H; Wang, Zhiwei Z; Gu, Ying Y; Tang, Xinxin X; Wang, Leilei L

Publication Date: 2023-02-14

Variant appearance in text: PAH: 1197A>T; V399V

PubMed Link: 36787440

Variant Present in the following documents:

• Main text
• MGG3-11-e2152.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: 1197A>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_Article_2231.pdf
• 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: 1197A>T

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.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: 1197A>T; Val399Val

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: 1197A>T; Val399Val

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

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Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Wang, Jie J; Zhu, Bo B; Zhang, Lichun L; Zhao, Yitong Y; Wang, Xiaohua X; Jia, Yueqi Y

Publication Date: 2021-08-25

Variant appearance in text: PAH: V399V

PubMed Link: 34704413

Variant Present in the following documents:

• Main text

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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: 1197A>T

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: 1197A>T

PubMed Link: 34039861

Variant Present in the following documents:

• Main text
• cm9-134-1626.pdf
• cm9-134-1626-s001.pdf

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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.

Orphanet Journal Of Rare Diseases

Wang, Xin X; Wang, Yanyun Y; Ma, Dingyuan D; Zhang, Zhilei Z; Li, Yahong Y; Yang, Peiying P; Sun, Yun Y; Jiang, Tao T

Publication Date: 2021-05-12

Variant appearance in text: PAH: Val399=

PubMed Link: 33980295

Variant Present in the following documents:

• Main text

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Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

International Journal Of Neonatal Screening

Odagiri, Shino S; Kabata, Daijiro D; Tomita, Shogo S; Kudo, Satoshi S; Sakaguchi, Tomoko T; Nakano, Noriko N; Yamamoto, Kouji K; Shintaku, Haruo H; Hamazaki, Takashi T

Publication Date: 2021-03-18

Variant appearance in text: PAH: 1197A>T; V399V

PubMed Link: 33803550

Variant Present in the following documents:

• Main text
• IJNS-07-00017.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: 1197A>T; V399V

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• BSR-2020-1660_supp.pdf
• bsr-41-bsr20201660.pdf

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An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.

Frontiers In Genetics

Zhang, Kuo K; Lin, Guigao G; Han, Dongsheng D; Han, Yanxi Y; Wang, Jian J; Shen, Yiping Y; Li, Jinming J

Publication Date: 2020

Variant appearance in text: PAH: 1197A>T

PubMed Link: 33240328

Variant Present in the following documents:

• Main text
• fgene-11-582637.pdf

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Screening Pathways through China, the Asia Pacific Region, the World.

International Journal Of Neonatal Screening

Wiley, Veronica V; Webster, Dianne D; Loeber, Gerard G

Publication Date: 2019-09

Variant appearance in text: PAH: 1197A>T; V399V

PubMed Link: 33072985

Variant Present in the following documents:

• IJNS-05-00026.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PAH: 1197A>T; Val399Val; rs199475584

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: 1197A>T

PubMed Link: 32039316

Variant Present in the following documents:

• Main text
• ao9b02955.pdf
• ao9b02955_si_001.pdf

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PAH: 1197A>T; Val399=

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 9

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Rapid detection of PAH gene mutations in Chinese people.

Bmc Medical Genetics

Zhang, Xin X; Chen, Huan-Xin HX; Li, Chuan C; Zhang, Gui G; Liao, Sheng-Yun SY; Peng, Zhuo-Chun ZC; Lai, Xiao-Ping XP; Wang, Ling-Li LL

Publication Date: 2019-08-05

Variant appearance in text:

PubMed Link: 31382905

Variant Present in the following documents:

• Main text
• 12881_2019_Article_860.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: 1197A>T; V399V

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PAH: 1197A>T; Val399Val

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Bmc Medical Genetics

Wang, Wenjie W; Yang, Jianping J; Xue, Jinjie J; Mu, Wenjuan W; Zhang, Xiaogang X; Wu, Wang W; Xu, Mengnan M; Gong, Yuyan Y; Liu, Yiqian Y; Zhang, Yu Y; Xie, Xiaobing X; Gu, Weiyue W; Bai, Jigeng J; Cram, David S DS

Publication Date: 2019-01-06

Variant appearance in text: PAH: 1197A>T

PubMed Link: 30612563

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: 1197A>T; V399V

PubMed Link: 30459323

Variant Present in the following documents:

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

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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: 1197A>T

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM7_ESM.xlsx, sheet 1
• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

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Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.

Medical Journal Of The Islamic Republic Of Iran

Rastegar Moghadam, Mahsa M; Shojaei, Azadeh A; Babaei, Vahid V; Rohani, Farzaneh F; Ghazi, Farideh F

Publication Date: 2018

Variant appearance in text: PAH: 1197A>T; V399V; rs199475584

PubMed Link: 30159272

Variant Present in the following documents:

• Main text

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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: V399V

PubMed Link: 30050108

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29640.pdf

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Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Guo, Kejian K; Zhou, Xuan X; Chen, Xigui X; Wu, Yili Y; Liu, Chuanxin C; Kong, Qingsheng Q

Publication Date: 2018

Variant appearance in text: PAH: V399V

PubMed Link: 29731766

Variant Present in the following documents:

• Main text
• fgene-09-00122.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: 1197A>T

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: 1197A>T; Val399=

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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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: 2017-10-05

Variant appearance in text: PAH: Val399=

PubMed Link: 28982351

Variant Present in the following documents:

• Main text
• 12881_2017_Article_467.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: Val399Val

PubMed Link: 28754886

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6462.pdf

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The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.

Molecular Genetics And Metabolism Reports

Purevsuren, Jamiyan J; Bolormaa, Baasandai B; Narantsetseg, Chogdon C; Batsolongo, Renchindorj R; Enkhchimeg, Ochirbat O; Bayalag, Munkhuu M; Hasegawa, Yuki Y; Shintaku, Haruo H; SeijiYamaguchi,

Publication Date: 2016-12

Variant appearance in text: PAH: V399V

PubMed Link: 27830119

Variant Present in the following documents:

• Main text

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A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW

Publication Date: 2016-11

Variant appearance in text: PAH: 1197A>T; V399V

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s006.pdf

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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Orphanet Journal Of Rare Diseases

Jeannesson-Thivisol, Elise E; Feillet, François F; Chéry, Céline C; Perrin, Pascal P; Battaglia-Hsu, Shyue-Fang SF; Herbeth, Bernard B; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; de Parscau, Loïc L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Guéant, Jean-Louis JL; Namour, Fares F

Publication Date: 2015-12-15

Variant appearance in text: PAH: 1197A>T

PubMed Link: 26666653

Variant Present in the following documents:

• Main text
• 13023_2015_Article_375.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: V399V

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: V399V

PubMed Link: 26322415

Variant Present in the following documents:

• Main text
• pr2015167a.pdf

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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: 1197A>T; V399V

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: 1197A>T; V399V

PubMed Link: 24705691

Variant Present in the following documents:

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

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